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An attenuated, adult case of AADC deficiency demonstrated by protein characterization Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-03-16 Giovanni Bisello, Christiaan G.J. Saris, Rossella Franchini, Marcel M. Verbeek, Michel A.A.P. Willemsen, Massimiliano Perduca, Mariarita Bertoldi
A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.1040G > A and c.679G > C) in compound heterozygosis, resulting in p.Arg347Gln and p.Glu227Gln amino acid alterations. While p.Arg347Gln is a known pathogenic variant, p.Glu227Gln is unknown. Combining clinical features to bioinformatic and
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The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-03-15 Huseyin Bilgin, Ayse Ergul Bozaci
It was aimed to identify markers that would indicate which cases presenting with rhabdomyolysis are more likely to be associated with inherited metabolic diseases. We analyzed 327 children who applied to our Hospital Pediatric Nutrition and Metabolic Diseases Clinic with rhabdomyolysis. The diagnosis of rhabdomyolysis was made by measuring the serum creatinine kinase level in cases presenting with
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Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-03-14 Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai
Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who presented with severe hepatosplenomegaly and cardiac ventricular hypertrophy. sequencing identified two variants: a known pathogenic missense variant, c.1544G>A
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Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-02-24 Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays several characteristic symptoms, including cerebellar hypoplasia, severe developmental retardation, hypothyroidism, impaired liver function, and abnormal serum
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Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-02-23 Déborah Mathis, Jasmine Koch, Sophie Koller, Kay Sauter, Christa Flück, Anne-Christine Uldry, Patrick Forny, D. Sean Froese, Alexander Laemmle
Mitochondrial malate dehydrogenase 2 (MDH2) is crucial to cellular energy generation through direct participation in the tricarboxylic acid (TCA) cycle and the malate aspartate shuttle (MAS). Inherited MDH2 deficiency is an ultra-rare metabolic disease caused by bi-allelic pathogenic variants in the gene, resulting in early-onset encephalopathy, psychomotor delay, muscular hypotonia and frequent seizures
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Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion) Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-02-22 Iris Scala, Lucia Brodosi, Valentina Rovelli, Davide Noto, Alberto Burlina
Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for administering pegvaliase, a novel enzyme replacement therapy for PKU. Virtual meetings convened in September 2022, gathering a steering committee (SC) of experts from
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Real-world evidence study finds no new-onset diabetes or drug-related hyperglycemia in Pompe disease patients treated with avalglucosidase alfa Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-02-20 Alexandra Dumitriu, Ann Lucas, Raffaella Colzani
Avalglucosidase alfa therapy for Pompe disease is diluted in dextrose 5% solution in water (D5W) for infusion, which raises questions about the potential for hyperglycemia or worsening diabetes. Using United States insurance claims data, we assessed the impact of biweekly infusions on hyperglycemia, new-onset diabetes mellitus, insulin resistance, and prediabetes in patients with Pompe disease. After
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Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-02-01 Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu
Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by gene variants with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible in an attempt to improve quality of life and survival. This study describes the clinical characteristics as well as the response to treatment
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Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-02-01 Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert, Dwight Koeberl, Sarah P. Young, Ashlee R. Stiles
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants in . Clinical symptoms are precipitated by prolonged fasting and/or intercurrent illness with onset before the first year of life. Clinically, patients may present with hypo−/ non-ketotic hypoglycemia, metabolic acidosis
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A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-30 Bo Huang, Shiwei Li, Yun Chai, Yu Fan, Xin Li, Yue Liu, Yunhong Fu, Xixi Song, Jingqiu Cui
Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene encoding on chromosome 10p14. Informed consent was obtained from a 38-year-old female patient. 5 mL of venous blood was collected and sent for whole-exome sequencing. constructs of both wild-type and mutant were transfected into HEK-293 T
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Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-28 Yuta Koto, Wakana Yamashita, Norio Sakai
Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions. Although enzyme replacement and gene therapies have been developed, they are not expected to be effective in patients with advanced diseases. Therefore, it is important to focus on treatment effects and patients' quality of life; however
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Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-26 Nodoka Ikeda, Yoichi Wada, Tomohito Izumi, Yuichiro Munakata, Hideki Katagiri, Shigeo Kure
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder caused by biallelic pathogenic variants in genes related to the flavoprotein complex. Dysfunction of the complex leads to impaired fatty acid oxidation and ketone body production which can cause hypoketotic hypoglycemia with prolonged fasting. Patients with fatty acid oxidation disorders (FAODs) such as MADD are treated
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Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-25 Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by . To investigate the phenotypes, genotypes and long-term outcomes of galactosemia, we performed a retrospective cohort study in our center. All individuals with galactosemia type I were included. We divided individuals into two groups to compare the outcomes
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X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-24 Hongmin Xi, Lili Ma, Xiangyun Yin, Ping Yang, Xianghong Li, Liangliang Li
X-linked intellectual developmental disorder is a rare X-linked genetic disease, manifested as heart disease, intellectual impairment, and developmental disorders.
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Natural history of three late-diagnosed classic Galactosemia patients Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-23 Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of
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A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-23 Domenic Filingeri, Sarah Mackey, Haley Soller, Alissa Guarneri-Tragone, James Cooper, Oscar Escobar, Jirair K. Bedoyan
Glycerol kinase deficiency (GKD) is a rare X-linked condition where glycerol cannot be phosphorylated to glycerol-3-phosphate, a key component of gluconeogenesis. Clinical presentation varies widely. We present a novel variant of the responsible in a patient with concurrent hepatoblastoma, whose course was complicated by hypoglycemia. Hepatoblastoma has not previously been described with GKD, highlighting
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Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-18 Lara M. Marten, Ralph Krätzner, Gajja S. Salomons, Matilde Fernandez Ojeda, Peter Dechent, Jutta Gärtner, Peter Huppke, Steffi Dreha-Kulaczewski
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficiency syndromes. Cerebral creatine depletion and accumulation of guanidinoacetate (GAA) lead to clinical presentation with intellectual disability, seizures, speech disturbances and movement disorders. Treatment consists of daily creatine supplementation to increase cerebral creatine, reduction of arginine
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Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-18 Renata Szalai, Agnes Till, Attila Gyenesei, Judit Bene, Kinga Hadzsiev
Prenatal whole exome sequencing (WES) approaches can provide genetic diagnosis with rapid turnaround time and high diagnostic rate when conventional tests are negative. Here we report a family with multiple pregnancy loss and with repeated occurrence of fetal microcephaly. Because of positive family history and recurrent structural abnormality during the pregnancies that may lead postnatal neurodevelopmental
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Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-17 Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and potentially fatal lysosomal storage disease. This two-part international study aimed to understand physician, patient, and caregivers' experiences during the ASMD diagnostic journey. Qualitative interviews were conducted with patients with ASMD type B or A/B, caregivers (for patients <18 years), and physicians (January 2018–May 2019)
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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-15 Elizabeth S. Tranel, Bridget McGowan, Andy Drackley, Leon G. Epstein, Vamshi K. Rao, Nancy L. Kuntz, Abigail N. Schwaede
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and respiratory insufficiency. Pathogenic variants in and are implicated in the pathogenesis of RTD type 2 and 3, respectively. Early identification of this
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Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-12 Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson
Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state. After ascertainment through newborn screen and dietary phenylalanine (Phe) restriction to achieve plasma Phe in the range of 120–360 μmol/L, these disease manifestations can be prevented. Poor compliance with protein restricted diets supported by medical
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Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-10 Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien
Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. This study presents a 12-year experience, emphasizing disease diagnosis and screening performance. NBS for galactosemia utilized dried blood spot samples taken 48–72 h post-delivery, with total galactose (TGal) level as the primary marker. Newborns with critical TGal levels were referred immediately, while those
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Cytochrome P450 genes expression in human prostate cancer Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-09 Oksana Maksymchuk, Ganna Gerashchenko, Inna Rosohatska, Oleksiy Kononenko, Andriy Tymoshenko, Eduard Stakhovsky, Volodymyr Kashuba
CYP-dependent metabolites play a critical role in regulating the cell cycle, as well as the proliferative, invasive, and migratory activity of cancer cells. We conducted a study to analyze the relative gene expression of various () in 41 pairs of prostate samples (tumor and conventional normal tissues) using qPCR. Our analysis determined significant individual variability in the expression levels of
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New mutations identified in a case of Glycogenin-1 deficiency Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-03 R. Pruvost, M. Csanyi, G. Lefebvre, V. Biancalana, E. Malfatti, F. Cassim, C. Oldfors, L. Defebvre, A. Oldfors, C. Tard
Abstract not available
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Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2024-01-02 Chika Takano, Erika Ogawa, Natsuko Arai-Ichinoi, Mika Ishige
Abstract not available
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Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-29 Oscar Werner, Lydia Ichay, Nabila Djouadi, Fernando Vetromile, Marie Vincenti, Sophie Guillaumont, Dominique P. Germain, Marc Fila
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Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT) Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-28 Young Bae Sohn, Raymond Wang, Jane Ashworth, Pierre Broqua, Mireille Tallandier, Jean-Louis Abitbol, Erin Jozwiak, Laura Pollard, Timothy C. Wood, Tariq Aslam, Paul R. Harmatz
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disorder characterized by deficient activity of arylsulfatase B enzyme (ASB) resulting in cellular accumulation of dermatan sulfate (DS) and chondroitin sulfate (CS) that leads to cell injury. Urinary glycosaminoglycans (GAG) are often used as a biomarker in MPS diseases for diagnosis and to monitor treatment efficacy
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Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-28 Abdul Rafiq Khan, Souad Al-Enazi, Areej Al-Gahtani, Saleh Al-Zahrani, Syed Muhammad Saad, Khalid Mohammed Khan, Ali Alothaim
Diagnosis of Biotinidase deficiency (BTD) is extremely important to avoid several neurodevelopmental problems in early childhood. Colorimetric and fluorometric methods lack specificity and selectivity due to several interferences resulting in a high number of false positive results. We developed an HPLC method for BTD activity in serum with fluorescent detection. In colorimetric assays, biotinidase
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Plasma arginine levels in arginase deficiency in the “real world” Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-28 Pranoot Tanpaiboon, Yue Huang, Judy Z. Louie, Rajesh Sharma, Stephen Cederbaum, Denise Salazar
Deficiency of arginase-1, the final enzyme in the urea cycle, causes a distinct clinical syndrome and is characterized biochemically by a high level of plasma arginine. While conventional therapy for urea cycle disorders can lower these levels to some extent, it does not normalize them. Until now, research on plasma arginine levels in this disorder has primarily relied on data from specialized tertiary
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A synonymous KCNJ11 variant leading to MODY13: A case report and literature review Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-26 Congli Chen, Yurong Piao, Yanmei Sang
Maturity-onset diabetes of the young, type 13 (MODY13) is a specific subclass of monogenic diabetes mellitus that does not exhibit the typical clinical manifestations of diabetes, necessitating the use of genetic testing for accurate diagnosis. With the progression of monogenic diabetes and MODY, the number of reported MODY13 cases has reached a minimum of 22. Nevertheless, there remains a dearth of
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Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1” Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-25 Manuel Pühringer, Astrid Eisenkölbl, Gudrun Gröppel
Abstract not available
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Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-24 Ruth Pulikottil-Jacob, Sumudu Dehipawala, Brittany Smith, Amod Athavale, Gaelle Gusto, Aastha Chandak, Artak Khachatryan, Tamar Banon, Marie Fournier, Sophie Guillonneau, Laurence Pollissard, Maria Veronica Munoz-Rojas
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease type A, A/B, and B, is a rare lysosomal storage pathology with multisystemic clinical manifestations. The aims of this study were to estimate the survival probability in patients in the United States with chronic ASMD (ASMD types B and A/B), and to describe the disease characteristics of these patients. This observational
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AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG) Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-16 M. Zhong, B. Balakrishnan, A.J. Guo, K. Lai
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure. With debilitating morbidity and significant mortality, it is imperative to explore novel, safe, and effective therapies for the disease. Our Proof-of-Concept study showed that AAV9- infection of patient fibroblasts augmented PMM2 expression and improved
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Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-15 Lea-Sophie Berendes, Petra Schulze Westhoff, Helmut Wittkowski, Anja Seelhöfer, Georg Varga, Thorsten Marquardt, Julien H. Park
Heme oxygenase 1 (HO-1) is the pivotal catalyst for the primary and rate-determining step in heme catabolism, playing a crucial role in mitigating heme-induced oxidative damage. Pathogenic variants in the gene which encodes HO-1, are responsible for a severe, multisystem disease characterized by recurrent inflammatory episodes, organ failure, and an ultimately fatal course. Chronic hemolysis and abnormally
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Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-14 Sarah C. Hurt, Moin U. Vera, Steven Q. Le, Shih-hsin Kan, Quang Bui, Patricia I. Dickson
Vascular involvement in the genetic disorder mucopolysaccharidosis type I (MPS I) has features of atherosclerotic disease near branch points of arterial vasculature, such as intimal thickening with disruption of the internal elastic lamina, and proliferation of macrophages and myofibroblasts. Inflammatory pathways are implicated in the pathogenesis of vascular disease in MPS I animal models, evidenced
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ScreenPlus: A comprehensive, multi-disorder newborn screening program Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-14 Nicole R. Kelly, Joseph J. Orsini, Aaron J. Goldenberg, Niamh S. Mulrooney, Natalie A. Boychuk, Megan J. Clarke, Katrina Paleologos, Monica M. Martin, Hannah McNeight, Michele Caggana, Sean M. Bailey, Lisa R. Eiland, Jaya Ganesh, Gabriel Kupchik, Rishi Lumba, Suhas Nafday, Annemarie Stroustrup, Michael H. Gelb, Melissa P. Wasserstein
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They
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The mutation spectrum and ethnic distribution of Wilson disease, a review Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-06 Zahra Beyzaei, Arman Mehrzadeh, Niko Hashemi, Bita Geramizadeh
Wilson's disease is a complicated medical condition caused by the accumulation of copper, mostly in the liver and brain. The genetic basis of Wilson's disease is attributed to the presence of pathogenic variants in the copper-transporting gene, which prevents the excretion of copper through the biliary tract. To date, remains the only identified gene that has been linked to the development of this
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A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-06 Runxuan Du, Haishen Tian, Bingyi Zhao, Xuedong Shi, Yanmei Sun, Bo Qiu, Yali Li
Non-immune hydrops fetalis (NIHF) is a common and severe manifestation of many genetic disorders. The ultrasound is an ideal method for diagnosing hydrops fetalis during pregnancy. Since most NIHFs do not have an identifiable cause, determining the underlying etiology remains a challenge for prenatal counseling. Due to advancements in exome sequencing, the diagnostic rates of NIHF have recently increased
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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-12-02 Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur
LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies from severe infantile to chronic, slowly progressive neuronal deterioration in adolescents or adults. Most individuals with LBSL are compound heterozygous for one splicing defect
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A different perspective into clinical symptoms in CPT I deficiency Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-30 Mehmet Cihan Balci, Meryem Karaca, Arzu Selamioglu, Huseyin Kutay Korbeyli, Asli Durmus, Belkis Ak, Tugba Kozanoglu, Gulden Fatma Gokcay
Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures, renal tubular acidosis, and hyperammonemia. The aim of this study was to investigate the neurological symptoms in CPT I deficiency and different outcomes
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Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-28 Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo
Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems. SLOS is caused by bi-allelic mutations in , which lead to reduced activity of 7-dehydrocholesterol reductase that catalyzes the last step in cholesterol biosynthesis. Symptoms of SLOS are thought to be due to cholesterol
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Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1 Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-28 Manuel Pühringer, Astrid Eisenkölbl, Gudrun Gröppel
Polyglucosan body myopathy-1 (PGBM1) is an extremely rare glycogen storage diseases that leads to muscle weakness and cardiomyopathy due to the accumulation of polyglucosan bodies. The clinical presentation appears to be partially dependent on the genetic mutation, but no clear genotype/phenotype correlation is currently possible.
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In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-25 Maximilian Breyer, Julia Grüner, Alexandra Klein, Laura Finke, Katharina Klug, Markus Sauer, Nurcan Üçeyler
Fabry disease (FD) is a life-limiting disorder characterized by intracellular globotriaosylceramide (Gb3) accumulations. The underlying α-galactosidase A (α-GAL A) deficiency is caused by variants in the gene . Variants of unknown significance (VUS) are frequently found in and challenge clinical management. Here, we investigated a 49-year old man with cryptogenic lacunar cerebral stroke and the chance
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A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-23 Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai
gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in were initially linked to myofibrillar myopathy and over time, evidence showed association of this gene with different forms of autosomal dominant cardiomyopathy including hypertrophic, dilated and restrictive forms.
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Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-22 Tomoyo Itonaga, Miwako Maeda, Hiroshi Koga, Yuki Hasegawa, Kenji Ihara
3-Methylglutaconic aciduria type 1 (MGCA1) is an inborn error of leucine catabolism caused by pathogenic variants of the gene. MGCA1 can be identified by newborn screening (NBS) with elevated C5-OH levels. We herein report a girl with MGCA1 detected by NBS. On day 5 after birth, NBS detected high C5-OH levels of 1.17 μmol/L (1.56 μmol/L [retest]). A urinary organic acid analysis revealed the abnormal
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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-21 Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung
With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerative disorders caused by pathogenic variants in the gene, has no reported specific targeted treatment yet. Here we report 2 Chinese brothers with bi-allelic
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Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-21 Ana Chiesa, Norma Spécola, Monique Poubel, Marcela Vela-Amieva, Elaina Jurecki, Daniel RF Vilela, Débora Mesojedovas, Giovanna Cavalcanti Carneiro, Hernán Eiroa, Keila Hayashi Nakamura, Marcela Lopes de Almeida, Roberta Brandão Cunha, Tatiana Amorim, Ida Vanessa Doederlein Schwartz
To characterize adherence to Phenylketonuria (PKU) management practices among PKU patients treated at reference sites around Argentina, Brazil, and Mexico. This is a retrospective, observational, multicenter, and multinational survey-based study using aggregate data. From an initial list of 40 sites, 22 clinicians expressed interest in completing the survey, with 20 clinicians from 20 unique sites
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Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-16 Irem Kalay, Hüseyin Aykut, Zuhal Caliskan, Gökhan Yigit, Bernd Wollnik
Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals with LPI show extreme variability in their clinical presentation, and LPI is included in the differential diagnosis of several disorders such as urea cycle disorders, lysosomal storage diseases, malabsorption diseases, autoimmune
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Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-11 Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders. These manifestations are closely associated with IDS enzyme activity, which catalyzes the stepwise degradation of heparan sulfate and dermatan sulfate
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Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-08 Kaoru Eto, Rina Itagaki, Ayumi Takamura, Yoshikatsu Eto, Satoru Nagata
Neuronal ceroid lipofuscinosis type1(CLN1), is a one form of the group of neuronal ceroid lipofuscinoses (NCLs), which is a neurodegenerative disorder characterized by progressive psychomotor deterioration, ataxia, epilepsy, and visual impairment. Neurological manifestations occur at a wide range of ages, from infancy to adulthood, but are most common in infancy. The prevalence of CLN1 is unclear;
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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-11-05 Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Paul Gissen
Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT) is the only curative therapy, but has several limitations including organ shortage, significant morbidity and requirement of lifelong immunosuppression
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Management of erythropoietic protoporphyria with cholestatic liver disease: A case report Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-31 Antoine Poli, Camilla Frieri, Thibaud Lefebvre, Juliette Delforge, Arienne Mirmiran, Neila Talbi, Boualem Moulouel, Marion Six, Valérie Paradis, Nathalie Parquet, Hervé Puy, Caroline Schmitt, Elisabeth Aslangul, Flore Sicre de Fontbrune, Laurent Gouya
Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX (PPIX) accumulation in erythroid cells. The porphyrins are photo-reactive and are responsible for severe photosensitivity in patients, thus drastically decreasing their quality of life. The liver eliminates PPIX and as such, the main and rare complication
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Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-29 Eriko Aoki, Noriyoshi Manabe, Shiho Ohno, Taiga Aoki, Jun-Ichi Furukawa, Akira Togayachi, Kiyoko Aoki-Kinoshita, Jin-Ichi Inokuchi, Kenji Kurosawa, Tadashi Kaname, Yoshiki Yamaguchi, Shoko Nishihara
Rare diseases are estimated to affect 3.5%–5.9% of the population worldwide and are difficult to diagnose. Genome analysis is useful for diagnosis. However, since some variants, especially missense variants, are also difficult to interpret, tools to accurately predict the effect of missense variants are very important and needed. Here we developed a method, “VarMeter”, to predict whether a missense
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Defective oligodendrocyte differentiation by hypomyelinating leukodystrophy 13 (HLD13)-associated mutation of Hikeshi Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-27 Yuki Miyamoto, Kohei Hattori, Junji Yamauchi
Abstract not available
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Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-20 Krista Viau, Leslie Martell, Ann Wessel, Fran Rohr, Suzanne Hollander, Melissa S. Putman, Stephanie Sacharow
Background Pegvaliase has allowed many adults with phenylketonuria (PKU) to achieve acceptable blood Phe control while eating an unrestricted diet. However, little is known about potential differences in nutritional status and eating behaviors after transitioning from a phenylalanine (Phe)-restricted to an unrestricted diet. Here we assessed change in nutritional status in adults with early-treated
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The diagnostic journey for patients with late-onset GM2 Gangliosidoses Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-18 Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu
Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ganglioside primarily within neurons, leading to cell death and progressive neurodegenerative symptoms, including ataxia, dysarthria, muscle weakness, tremors
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Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-11 Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P. Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev
Deficiencies of lysosomal enzymes responsible for the degradation of glycosaminoglycans (GAG) cause pathologies commonly known as the mucopolysaccharidoses (MPS). Each type of MPS is caused by a deficiency in a specific GAG-degrading enzyme and is characterized by an accumulation of disease-specific GAG species. Previously, we have shown the potential of the beta-D-xyloside, odiparcil, as an oral GAG
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Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency” Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-09 Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Abstract not available
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Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-10-06 Martina Bon, Andrea Dardis, Maurizio Scarpa, Annalisa Sechi
Neuropathic pain is one of the most invalidating symptoms in patients with Fabry disease (FD), affecting their quality of life, it is linked to small fiber neuropathy and it may not respond to available disease specific treatments. We report the case of a 32 years old man with classic FD and severe neuropathic pain who, after the failure of several standard pharmaceutical approaches, was treated with
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Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria Mol. Genet. Metab. Rep. (IF 1.9) Pub Date : 2023-09-26 Timothy Nicholas Fazio, Louise Healy, Tim Heise, Anita Inwood, Catherine Manolikos, Yusof Rahman, Hans-Juergen Woerle, Christian J. Hendriksz