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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-09-10 Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez‐Solana, Matilde Ruiz‐Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar‐Feigenberg, Drago Bratkovic, Stewart Rust, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian
Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X‐linked, heterogeneous lysosomal storage disease. Approximately two‐thirds of patients develop cognitive impairment, which is difficult to assess in clinical trials, partly owing to the variable nature of cognitive impairment. Analyzing data from siblings can help to minimize this heterogeneity. We report analyses of cognitive
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Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study. J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-09-05 François Feillet,Jean-Baptiste Arnoux,María Bueno Delgado,Alberto Burlina,Brigitte Chabrol,Ece Kucuksayrac,Florian B Lagler,Ania C Muntau,David Olsson,Sabrina Paci,Frank Rutsch,Francjan J van Spronsen,
Phenylketonuria is a rare inherited disorder that disrupts the metabolism of phenylalanine (Phe) to tyrosine by phenylalanine hydroxylase (PAH). Sapropterin dihydrochloride (Kuvan®) is approved for use in Europe to reduce blood Phe levels and improve Phe tolerance in sapropterin-responsive individuals. KAMPER (NCT01016392) is an observational, multinational registry assessing long-term safety and efficacy
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Intra‐ and extracellular real‐time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-09-05 Christian Urzì, Christoph Meyer, Déborah Mathis, Peter Vermathen, Jean‐Marc Nuoffer
IntroductionMetabolomic discrimination of different mitochondrial defects is challenging. We describe an NMR‐based bioreactor allowing real‐time intra‐ and extracellular metabolic investigation of perfused fibroblasts.ObjectivesThe objective of this study is (I) determining whether metabolic investigations of perfused fibroblasts overall and separated for intra‐ and extracellular contributions by real‐time
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High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-09-04 Kexin Jiao, Bochen Zhu, Xueli Chang, Junhong Guo, Jun Fu, Xueqin Song, Xuen Yu, Xiaoge Zhang, Jihong Dong, Wang Yan, Xinghua Luan, Zhiqiang Wang, Hong Han, Lijun Du, Liqiang Yu, Yali Zhang, Jingjing Zhang, Yan Chen, Jing Hu, Zhe Zhao, Juan Kang, Song Tan, Zhiyun Wang, Shanshan Mao, Fangyuan Qian, Ronghua Luo, Changxia Liu, Zhengyu Huang, Gang Li, Xia Li, Lijun Luo, Dong Li, Yuanlin Zhou, Xiafei Hu
Late‐onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha‐glucosidase (GAA), leading to progressive limb‐girdle weakness and respiratory impairment. The insidious onset of non‐specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high‐risk screening criteria for LOPD in the Chinese population. A total of 726 patients were
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Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-27 Elena Schnabel‐Besson, Sven F. Garbade, Florian Gleich, Sarah C. Grünert, Johannes Krämer, Eva Thimm, Julia B. Hennermann, Peter Freisinger, Peter Burgard, Gwendolyn Gramer, Marina A. Morath, A. Tunç Tuncel, Svenja Keßler, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze
Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long‐term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly investigated. The aim of this longitudinal questionnaire‐based
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A 6‐month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complications J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-26 Amira Abdel Moneam Adly, Eman Abdel Rahman Ismail, Fatma A. Ibrahim, Mira Atef, Khaled Anwar El Sayed, Nihal Hussien Aly
Enzymatic deficiency in Gaucher disease (GD) may induce oxidative stress. Vitamin E is the nature's most effective lipid‐soluble antioxidant. This prospective clinical trial assessed the oxidant‐antioxidant status in Egyptian patients with GD and the efficacy and safety and of vitamin E as an adjuvant antioxidant therapy. Forty children and adolescents with GD on stable doses of enzyme replacement
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Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-23 Eline C. B. Eskes, Laura van Dussen, Marion M. M. G. Brands, Frédéric M. Vaz, Johannes M. F. G. Aerts, André B. P. van Kuilenburg, Barbara Sjouke, Carla E. M. Hollak
Acid sphingomyelinase deficiency (ASMD) is an ultra‐rare lysosomal storage disease with a broad spectrum of manifestations ranging from severe neuropathic forms to attenuated, chronic visceral forms. Manifestations of the chronic visceral subtype are variable and encompass different degrees of hepatosplenomegaly, pulmonary disease and dyslipidemia. The aim of this study was to provide insights into
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Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-22 Giovanni Bisello, Rossella Franchini, Cristian Andres Carmona Carmona, Mariarita Bertoldi
AADC deficiency is a severe neurometabolic inherited rare disorder due to the absence or decrease of dopamine and serotonin levels, causing deep motor and neurodevelopmental impairments. The disease is often fatal in the first decade of life, and pharmacological treatments (dopamine agonists, pyridoxine, and monoamine oxidase inhibitors as the first‐line choices) can only alleviate the symptoms. Gene
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Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-17 Giorgia Olivieri, Benedetta Greco, Sara Cairoli, Giulio Catesini, Francesca Romana Lepri, Lorenzo Orazi, Maria Mallardi, Diego Martinelli, Daniela Ricci, Raffaele Simeoli, Carlo Dionisi‐Vici
Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While international guidelines recommend parenteral hydroxocobalamin (OH‐Cbl) as effective treatment, dose adjustments remain unclear. We assessed OH‐Cbl therapy impact on biochemical, neurocognitive and visual outcomes in early‐onset Cbl‐C patients treated
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Health and well‐being of maturing adults with classic galactosemia J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-15 Olivia S. Garrett, Jared J. Druss, E. Naomi Vos, Yu‐Ting Debbie Fu, Stephanie Lucia, Patricia E. Greenstein, Anna Bauer, Jolanta Sykut‐Cegielska, Karolina M. Stepien, Cameron Arbuckle, Olga Grafakou, Uta Meyer, Nele Vanhoutvin, Adriana Pané, Annet M. Bosch, Estela Rubio‐Gozalbo, Gerard T. Berry, Judith L. Fridovich‐Keil
Long‐term outcomes in classic galactosemia (CG) have been studied previously, but all prior studies have relied on cohorts of patients that were small in number, or heavily skewed toward children and young adults, or both. Here, we extend what is known about the health and well‐being of maturing adults with CG by analyzing the results of anonymous custom surveys completed by 92 affected individuals
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Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-13 Hortense de Calbiac, Apolline Imbard, Pascale de Lonlay
Acute rhabdomyolysis (RM) constitutes a life‐threatening emergency resulting from the (acute) breakdown of skeletal myofibers, characterized by a plasma creatine kinase (CK) level exceeding 1000 IU/L in response to a precipitating factor. Genetic predisposition, particularly inherited metabolic diseases, often underlie RM, contributing to recurrent episodes. Both sporadic and congenital forms of RM
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Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-13 Catherine Patterson, Anna Gold, Stephanie So, Leila Kahnami, Michaela Dworsky‐Fried, Eva Mamak, Alaine Rogers, Andreas Schulze, Birgit Ertl‐Wagner, Vicky Ng, Yaron Avitzur
This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1‐year, and 3‐years post‐LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021. Standardized motor and cognitive assessment scores were collected from children who had ≥1 motor/cognitive
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Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG) J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-08-06 Tara Weixel, Dee Adedipe, Glennis Muldoon, Christina Lam, Donna Krasnewich, Audrey Thurm, Lynne Wolfe
PMM2‐CDG (formerly CDG‐1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2‐CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide. There have been few natural history studies reporting neurodevelopmental characterization of PMM2‐CDG. Thus, a prospective study
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Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-30 Ji Hee Kwak, Yong Jun Choi, Sinae Kim, Aram Yang
Mucopolysaccharidosis type II (MPS II) is a rare multisystemic lysosomal disorder in which cardiac issues can lead to serious dysfunction and an increased risk of fatal cardiac failure. However, studies on major adverse cardiac event (MACE) outcomes in MPS II are lacking. This study evaluated the cardiovascular outcomes and impact of enzyme replacement therapy (ERT) in patients with MPS II in South
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Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-25 Kristýna Čunátová, Erika Fernández‐Vizarra
Mitochondrial disorders are a group of clinically and biochemically heterogeneous genetic diseases within the group of inborn errors of metabolism. Primary mitochondrial diseases are mainly caused by defects in one or several components of the oxidative phosphorylation system (complexes I–V). Within these disorders, those associated with complex III deficiencies are the least common. However, thanks
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The natural history of dihydrolipoamide dehydrogenase deficiency in Israel J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-23 Ben Pode‐Shakked, Yuval E. Landau, Nava Shaul Lotan, Joshua Manor, Nitsan Haham, Eyal Kristal, Eli Hershkovitz, Guy Hazan, Yarden Haham, Shlomo Almashanu, Yair Anikster, Orna Staretz‐Chacham
Dihydrolipoamide dehydrogenase (DLD) deficiency is an ultra‐rare autosomal‐recessive inborn error of metabolism, affecting no less than five mitochondrial multienzyme complexes. With approximately 30 patients reported to date, DLD deficiency was associated with three major clinical presentations: an early‐onset encephalopathic phenotype with metabolic acidosis, a predominantly hepatic presentation
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Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-23 Youssef Khalil, Emma Footitt, Reddy Vootukuri, Michael F. Wempe, Curtis R. Coughlin, Spyros Batzios, Matthew P. Wilson, Viktor Kožich, Peter T. Clayton, Philippa B. Mills
ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α‐Aminoadipic semialdehyde (α‐AASA) and Δ1‐piperideine‐6‐carboxylate (P6C), which accumulate because of the block in the lysine pathway, are diagnostic biomarkers for this disorder
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Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-19 Derralynn A. Hughes, Gere Sunder‐Plassmann, Ana Jovanovic, Eva Brand, Michael L. West, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, Aleš Linhart, Jasmine Rutecki, Joseph D. Giuliano, Eva Krusinska, Peter Nordbeck
Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused registry evaluating outcomes for current Fabry disease treatments
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The therapeutic landscape of citrin deficiency J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-18 Toni Vuković, Li Eon Kuek, Barbara Yu, Georgios Makris, Johannes Häberle
Citrin deficiency (CD) is a recessive, liver disease caused by sequence variants in the SLC25A13 gene encoding a mitochondrial aspartate–glutamate transporter. CD manifests as different age‐dependent phenotypes and affects crucial hepatic metabolic pathways including malate–aspartate‐shuttle, glycolysis, gluconeogenesis, de novo lipogenesis and the tricarboxylic acid and urea cycles. Although the exact
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Citrin deficiency—The East‐side story J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-12 Johannes Häberle
Citrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutamate carrier located in the mitochondrial inner membrane. The condition was first described in Japan and other East Asian countries in patients who were thought to suffer from classical citrullinemia type 1, and was therefore classified as a urea cycle disorder. With an improved understanding
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Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-12 Rachel E. Hickey, Joshua Baker
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme. Current estimates of disease incidence range from 0.4 to 0.6 in 100 000 livebirths
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The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-09 Moritz Ilan Truninger, Helene Werner, Markus Andreas Landolt, Andreas Hahn, Julia B. Hennermann, Florian B. Lagler, Dorothea Möslinger, Charlotte Pfrimmer, Marianne Rohrbach, Martina Huemer
Genetic disorders pose great challenges for affected individuals and their families, as they must cope with the irreversible nature of the disease and a life‐long dependence on medical assistance and treatment. Children and adolescents dealing with Pompe disease (PD) often struggle to keep up with their peers in physical activities. To gain valuable insights into their subjective experiences and better
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Correction to “Isolated remethylation disorders: Do our treatments benefit patients?” J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-09
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New variants expand the neurological phenotype of COQ7 deficiency J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-08 María Alcázar Fabra, Abraham J. Paredes‐Fuentes, Manuel Torralba Carnerero, Daniel J. Moreno Férnandez de Ayala, Antonio Arroyo Luque, Ana Sánchez Cuesta, Carmine Staiano, Paula Sanchez‐Pintos, María Luz Couce, Miguel Tomás, Ana Victoria Marco‐Hernández, Carmen Orellana, Francisco Martínez, Mónica Roselló, Alfonso Caro, Juan Silvestre Oltra Soler, Sandra Monfort, Alejandro Sánchez, Dolores Rausell
The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3‐demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ10 deficiency syndrome associated with a pleiotropic neurological disorder. This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ10 primary deficiency caused by
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Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type‐A J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-05 Amane Matsuura, Takenori Tozawa, Masaharu Moroto, Yosuke Miyamoto, Yasuhiro Kawabe, Masashi Zuiki, Tatsuji Hasegawa, Taisei Kayaki, Naoko Yano, Takeshi Yoshida, Tomohiro Chiyonobu, Masafumi Morimoto, Tomoko Iehara
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Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-04 Antonio Pisani, Kathryn M. Wilson, Julie L. Batista, Ilkka Kantola, Alberto Ortiz, Juan Politei, Laila Al‐Shaar, Manish Maski, Ana Crespo, Elvira Ponce, Aleš Linhart
Fabry Registry data were analyzed among 83 agalsidase beta‐treated patients with Fabry disease who switched to migalastat. Outcomes (estimated glomerular filtration rate [eGFR], urine protein‐creatinine ratio [UPCR], plasma globotriaosylceramide [GL‐3], plasma globotriaosylsphingosine [lyso‐GL‐3], interventricular septal wall thickness [IVST], left posterior wall thickness [LPWT], left ventricular
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Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT‐null D. Melanogaster model of classic galactosemia J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-04 Jennifer M. I. Daenzer, Jared J. Druss, Judith L. Fridovich‐Keil
Classic galactosemia (CG) is an autosomal recessive disorder that results from profound deficiency of galactose‐1‐phosphate uridylyltransferase (GALT), the middle enzyme in the highly conserved Leloir pathway of galactose metabolism. That galactose metabolism is disrupted in patients with CG, and in GALT‐null microbial, cell culture, and animal models of CG, has been known for many years. However,
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MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-07-02 Nicole Hammann, Dominic Lenz, Alyssa Bianzano, Ralf A. Husain, Eva Forman, Jonathan A. Bernstein, Tal Dattner, Marc Engelen, Andrea K. Hanson‐Kahn, Bertrand Isidor, Urania Kotzaeridou, Anna Tietze, Regina Trollmann, Claudia Weiß, Bruce H. R. Wolffenbuttel, Stefan Kölker, Georg F. Hoffmann, Ellen Crushell, Christian Staufner, Alexander Mohr, Inga Harting
Leucine aminoacyl tRNA‐synthetase 1 (LARS1)‐deficiency (infantile liver failure syndrome type 1 (ILFS1)) has a multisystemic phenotype including fever‐associated acute liver failure (ALF), chronic neurologic abnormalities, and encephalopathic episodes. In order to better characterize encephalopathic episodes and MRI changes, 35 cranial MRIs from 13 individuals with LARS1 deficiency were systematically
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Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-06-22 I. J. J. Muffels, M. Sadek, T. Kozicz, E. Morava
Mono‐allelic DHDDS variants are associated with seizures, intellectual disability, and movement disorders. The age of onset and progression rates of symptoms vary greatly among patients, spanning from infancy to late adulthood. Yet, the reasons behind this clinical variability and the underlying pathophysiological mechanisms of the disease have remained elusive. We investigated the age of onset and
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Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study. J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-06-19 Quentin Salardaine,Natalia Shor,Nicolas Villain,Frédérique Bozon,Maria Del Mar Amador,Clarisse Duchon,Nicolas Mélé,Manuel Schiff,Anaïs Brassier,Yann Nadjar
Cerebrotendinous xanthomatosis is a rare and treatable metabolic disorder related to the accumulation of cholestanol. This disorder is primarily associated with motor and cognitive impairments, although the latter has not been extensively characterized. The objectives of this work were to define the cognitive profile found in cerebrotendinous xanthomatosis patients, investigate the progression of cognitive
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Quo vadis ureagenesis disorders? A journey from 90 years ago into the future. J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-06-04 Johannes Häberle,Barbara Siri,Carlo Dionisi-Vici
The pathway of ammonia disposal in the mammalian organism has been described in 1932 as a metabolic cycle present in the liver in different compartments. In 1958, the first human disorder affecting this pathway was described as a genetic condition leading to cognitive impairment and constant abnormalities of amino acid metabolism. Since then, defects in all enzymes and transporters of the urea cycle
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Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi‐Bickel syndrome with empagliflozin J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-28 Ruben J. Overduin, Sarah C. Grünert, Martine T. P. Besouw, Mathieu S. Bolhuis, Joost Groen, Andrea B. Schreuder, Mathias Woidy, Simona Murko, René Santer, Terry G. J. Derks
Renal proximal tubulopathy in Fanconi‐Bickel syndrome is caused by impaired basolateral glucose transport via GLUT2 and consequently, intracellular accumulation of glucose and glycogen. SGLT2 inhibitors act on apical glucose reabsorption of renal proximal tubular cells. The purpose of this study was to retrospectively describe the first experiences with repurposing the SGLT2 inhibitor empagliflozin
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Conserved quality control mechanisms of mitochondrial protein import J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-25 Lion Borgert, Thomas Becker, Fabian den Brave
Mitochondria carry out essential functions for the cell, including energy production, various biosynthesis pathways, formation of co‐factors and cellular signalling in apoptosis and inflammation. The functionality of mitochondria requires the import of about 900–1300 proteins from the cytosol in baker's yeast Saccharomyces cerevisiae and human cells, respectively. The vast majority of these proteins
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International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-25 Hemmo A. F. Yska, Bela R. Turk, Ali Fatemi, Jordan Goodman, Marije Voermans, Dan Amos, Man Amanat, Stephanie van de Stadt, Marc Engelen, Amena Smith‐Fine, Jennifer Keller
BackgroundThe most common manifestation of X‐linked adrenoleukodystrophy (ALD) is a slowly progressive myeloneuropathy, which leads to imbalance and gait disturbances. The variable progression of the disease complicates evaluation of its progression rate. Wearable sensors allow for easy and frequent balance and gait collection. This study reports baseline data from a longitudinal study on the quantitative
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Regulatory news: Olipudase alfa-rpcp (Xenpozyme™) for treatment of non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients-FDA Approval summary. J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-21 Yuen Yi Hon,Anita Zaidi,,Kathleen Donohue,Christine Nguyen
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Regulatory news: Cipaglucosidase alfa-atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late-onset Pompe disease. J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-20 Daniela V Luquetti,Linda J B Jeng,Kathleen M Donohue,Janet W Maynard,
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Neuronopathic Gaucher disease: Rare in the West, common in the East J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-20 Ozlem Goker‐Alpan, Margarita M. Ivanova
Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurological symptoms are understated. nGD may manifest as the acute neuronopathic type, or GD type 2 (GD2), either prenatally or within the first weeks to months of life,
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Comparative analysis of gene and disease selection in genomic newborn screening studies J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-17 Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl
Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included. In this study, we present a comprehensive analysis of seven published gene–disease lists from gNBS studies, evaluating
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Neurotransmitters … it is all about communication! J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-15 Thomas Opladen, Mariarita Bertoldi
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Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-14 Nadine Gougeard, Enea Sancho‐Vaello, M. Leonor Fernández‐Murga, Borja Martínez‐Sinisterra, Badr Loukili‐Hassani, Johannes Häberle, Clara Marco‐Marín, Vicente Rubio
N‐acetylglutamate synthase (NAGS) makes acetylglutamate, the essential activator of the first, regulatory enzyme of the urea cycle, carbamoyl phosphate synthetase 1 (CPS1). NAGS deficiency (NAGSD) and CPS1 deficiency (CPS1D) present identical phenotypes. However, they must be distinguished, because NAGSD is cured by substitutive therapy with the N‐acetyl‐L‐glutamate analogue N‐carbamyl‐L‐glutamate
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Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-14 Sydney Stern, Jie Wang, Ruo‐Jing Li, Yuen Yi Hon, Shawna L. Weis, Yow‐Ming C. Wang, Robert Schuck, Michael Pacanowski
Inborn errors of metabolism (IEM) such as lysosomal storage disorders (LSDs) are conditions caused by deficiency of one or more key enzymes, cofactors, or transporters involved in a specific metabolic pathway. Enzyme replacement therapy (ERT) provides an exogenous source of the affected enzyme and is one of the most effective treatment options for IEMs. In this paper, we review the first‐in‐human (FIH)
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Human genetic defects of sphingolipid synthesis J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-06 Patricia Dubot, Frédérique Sabourdy, Thierry Levade
Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids. In many instances, these gene variants result in the loss of catalytic
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Disorders of fatty acid homeostasis J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-05-02 Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders
Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of double bonds, the 2‐ and ω‐hydroxylation and chain elongation
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Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-25 Britt Derks, Varsha Shashi Kumar, Sai Yadnik, Bianca Panis, Annet M. Bosch, David Cassiman, Mirian C. H. Janssen, Teresa Schuhmann, M. Estela Rubio‐Gozalbo, Bernadette M. Jansma
Patients with classic galactosemia (CG), an inborn error of galactose metabolism, suffer from impairments in cognition, including language processing. Potential causes are atypical brain oscillations. Recent electroencephalogram (EEG) showed differences in the P300 event‐related‐potential (ERP) and alterations in the alpha/theta‐range during speech planning. This study investigated whether transcranial
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Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-17 Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by
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Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-16 Sema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, Ebru Canda, Havva Yazıcı, Merve Yoldaş Çelik, Fehime Erdem, Ayşe Yüksel Yanbolu, Zülal Ülger, Mahmut Çoker
Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria. Of these, 10 patients (mean age 11.2 ±
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Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-16 Melanie B. Gillingham, Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L. Scanga, Ken K. Nischal, Jose‐Alain Sahel, Georgianne Arnold, Jerry Vockley, Cary O. Harding, Mark E. Pennesi
Long chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via
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Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-16 Wladimir Mauhin, Gaelle Dzangue‐Tchoupou, Damien Amelin, Aurélien Corneau, Foudil Lamari, Yves Allenbach, Bertrand Dussol, Vanessa Leguy‐Seguin, Pauline D'Halluin, Marie Matignon, François Maillot, Kim‐Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove, Olivier Benveniste
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Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-15 Alexandra Klein, Katharina Klug, Maximilian Breyer, Julia Grüner, Vijay Krishna Medala, Peter Nordbeck, Christoph Wanner, Eva Klopocki, Nurcan Üçeyler
Fabry disease (FD) is an X‐linked multiorgan disorder caused by variants in the alpha‐galactosidase A gene (GLA). Depending on the variant, disease phenotypes range from benign to life‐threatening. More than 1000 GLA variants are known, but a link between genotype and phenotype in FD has not yet been established for all. p.A143T, p.D313Y, and p.S126G are frequent examples of variants of unknown significance
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Altered neural oscillations in classical galactosaemia during sentence production J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-11 Sara Mazzini, Sai Yadnik, Inge Timmers, Estela Rubio‐Gozalbo, Bernadette M. Jansma
Classical galactosaemia (CG) is a hereditary disease in galactose metabolism that despite dietary treatment is characterized by a wide range of cognitive deficits, among which is language production. CG brain functioning has been studied with several neuroimaging techniques, which revealed both structural and functional atypicalities. In the present study, for the first time, we compared the oscillatory
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Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-10 Earnest J. P. Daniel, Andrew C. Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H. Freeze, Miao He
ALG3‐CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent infections. The ALG3 enzyme catalyzes the first step of endoplasmic reticulum (ER) luminal glycan extension by adding mannose from Dol‐P‐Man to Dol‐PP‐Man5GlcNAc2 (Man5) forming Dol‐PP‐Man6. Such glycan extension is the first and fastest cellular
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Impaired coenzyme A homeostasis in cardiac dysfunction and benefits of boosting coenzyme A production with vitamin B5 and its derivatives in the management of heart failure J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-09 J. J. Wedman, O. C. M. Sibon, E. Mastantuono, A. Iuso
Coenzyme A (CoA) is an essential cofactor required for over a hundred metabolic reactions in the human body. This cofactor is synthesized de novo in our cells from vitamin B5, also known as pantothenic acid, a water‐soluble vitamin abundantly present in vegetables and animal‐based foods. Neurodegenerative disorders, cancer, and infectious diseases have been linked to defects in de novo CoA biosynthesis
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Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-08 J. J. A. van den Dorpel, M. J. Mackenbach, M. H. G. Dremmen, W. M. C. van der Vlugt, D. Rizopoulos, P. A. van Doorn, A. T. van der Ploeg, R. Muetzel, N. A. M. E. van der Beek, J. M. P. van den Hout
The aim of this longitudinal cohort study, is to provide more insight into the pattern of brain abnormalities, and possible consequences for cognitive functioning, in patients with classic infantile Pompe disease. We included 19 classic infantile Pompe patients (median age last assessment 8.9 years, range 1.5–22.5 years; 5/19 CRIM negative), treated with ERT. Using MR imaging of the brain (T1, T2,
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Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-06 Henry H. C. Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L. Pearl, Mustafa Sahin, Alexander Rotenberg
Neurodevelopment is a highly organized and complex process involving lasting and often irreversible changes in the central nervous system. Inherited disorders of neurotransmission (IDNT) are a group of genetic disorders where neurotransmission is primarily affected, resulting in abnormal brain development from early life, manifest as neurodevelopmental disorders and other chronic conditions. In principle
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Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-02 Anna T. Reischl‐Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer‐Steinhoff, Sarah C. Grünert, Eva Thimm, Peter Freisinger, Julia B. Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, Ulrike Mütze
The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combined and isolated remethylation disorders (e.g., cobalamin [cbl] C and methylenetetrahydrofolate reductase [MTHFR] deficiency), cystathionine β‐synthase (CBS) deficiency
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The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-04-01 A. M. J. van Wegberg, J. C. van der Weerd, U. F. H. Engelke, K. L. M. Coene, R. Jahja, S. J. L. Bakker, S. C. J. Huijbregts, R. A. Wevers, M. R. Heiner‐Fokkema, F. J. van Spronsen
Recent studies in PKU patients identified alternative biomarkers in blood using untargeted metabolomics. To test the added clinical value of these novel biomarkers, targeted metabolomics of 11 PKU biomarkers (phenylalanine, glutamyl‐phenylalanine, glutamyl‐glutamyl‐phenylalanine, N‐lactoyl‐phenylalanine, N‐acetyl‐phenylalanine, the dipeptides phenylalanyl‐phenylalanine and phenylalanyl‐leucine, phenylalanine–hexose
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What can pediatricians learn from adult inherited metabolic diseases? J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-03-23 Fanny Mochel
The field of inherited metabolic diseases (IMD) has initially emerged and developed over decades in pediatric departments. Still, today, about 50% of patients with IMD are adults, and adult metabolic medicine (AMM) is getting more structured at national and international levels. There are several domains in which pediatricians can learn from AMM. First, long‐term evolution of IMD patients, especially
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Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition J. Inherit. Metab. Dis. (IF 4.2) Pub Date : 2024-03-19 Jun Kido, Georgios Makris, Saikat Santra, Johannes Häberle
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD: OMIM 605814), post-NICCD including failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type II citrullinemia (CTLN2: