BACKGROUND Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is estimated to be 9/1,000,000 and the prevalence at birth approximately 1/200,000. The clinical features of this disease are divided into three groups of symptoms linked to a defect in electron transfer flavoprotein (ETF) metabolism. In this case report, we present new pathogenic variations in one of the two ETF protein subunits, called electron transfer flavoprotein alpha (ETFA), in a childhood-stage patient with no antecedent. CASE PRESENTATION A five-year-old child was admitted to the paediatric emergency unit for seizures without fever. He was unconscious due to hypoglycaemia confirmed by laboratory analyses. At birth, he was a eutrophic full-term new-born with a normal APGAR index (score for appearance, pulse, grimace, activity, and respiration). He had one older brother and no parental consanguinity was reported. A slight speech acquisition delay was observed a few months before his admission, but he had no schooling problems. MADD was suspected based on urinary organic acids and plasma acylcarnitine analyses and later confirmed by genetic analysis, which showed previously unreported ETFA gene variations, both heterozygous (c.354C > A (p.Asn118Lys) and c.652G > A (p.Val218Met) variations). Treatment was based on avoiding fasting and a slow carbohydrate-rich evening meal associated with L-carnitine supplementation (approximately 100 mg/kg/day) for several weeks. This treatment was maintained and associated with riboflavin supplementation (approximately 150 mg/day). During follow up, the patient exhibited normal development and normal scholastic performance, with no decompensation. CONCLUSION This case report describes new pathogenic variations of the ETFA gene. These compound heterozygous mutations induce the production of altered proteins, leading to a mild form of MADD.

中文翻译：

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一例因ETFA基因中的复合杂合突变而导致的轻度形式的多种酰基辅酶A脱氢酶缺乏症的病例报告。

背景技术多种酰基辅酶A脱氢酶缺乏症（MADD），以前称为II型戊二酸尿症，是一种罕见的先天性脂肪酸和氨基酸氧化代谢疾病，具有隐性常染色体遗传途径。普通人群的患病率估计为9 / 1,000,000，出生时的患病率约为1 / 200,000。该疾病的临床特征分为与电子转移黄素（ETF）代谢缺陷有关的三组症状。在此病例报告中，我们介绍了在儿童期无先例的两个ETF蛋白亚基之一中的新病原体变异，称为电子转移黄素蛋白α（ETFA）。病例介绍一名五岁儿童因不发烧发作被送入儿科急诊科。实验室分析证实他因血糖过低而失去知觉。他出生时是富营养的足月新生儿，APGAR指数正常（外观，脉搏，鬼脸，活动和呼吸得分）。他有一个哥哥，没有父母亲血统的报道。在他入学前几个月观察到轻微的语言习得延迟，但是他没有上学问题。根据尿有机酸和血浆酰基肉碱分析怀疑MADD，随后通过遗传分析证实，这表明以前未报告的ETFA基因变异，既是杂合的（c.354C> A（p.Asn118Lys），又是c.652G> A（p.Val218Met ） 变化）。治疗的基础是避免空腹和缓慢补充L-肉碱（约100 mg / kg /天）的富含碳水化合物的晚餐，持续数周。维持该治疗并与补充核黄素有关（约150 mg /天）。在随访期间，患者表现出正常的发育和正常的学术表现，没有失代偿。结论本病例报告描述了ETFA基因的新致病性变异。这些复合杂合突变诱导蛋白质改变的产生，导致轻度形式的MADD。