Genetic and Developmental Medicine Clinic, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Eur J Hum Genet. 2022 Aug;30(8):976-979. doi: 10.1038/s41431-021-00995-7. Epub 2021 Nov 12.
Mitochondrial flavin adenine dinucleotide (FAD) transporter deficiencies are new entities recently reported to cause a neuro-myopathic phenotype. We report three patients from two unrelated families who presented primarily with hypoketotic hypoglycemia. They all had acylcarnitine profiles suggestive of multiple acyl-CoA dehydrogenase deficiency (MADD) with negative next-generation sequencing of electron-transfer flavoprotein genes (ETFA, ETFB, and ETFDH). Whole exome sequencing revealed a homozygous c.272 G > T (p.Gly91Val) variant in exon 2 of the SLC25A32 gene. The three patients shared the same variant, and they all demonstrated similar clinical and biochemical improvement with riboflavin supplementation. To date, these are the first patients to be reported with hypoketotic hypoglycemia without the neuromuscular phenotype previously reported in patients with SLC25A32 deficiency.
线粒体黄素腺嘌呤二核苷酸（FAD）转运蛋白缺乏症是最近报道的引起神经肌肉病表型的新实体。我们报告了来自两个无关家庭的 3 名患者，他们主要表现为低酮性低血糖。他们的酰基肉碱谱均提示多种酰基辅酶 A 脱氢酶缺乏症（MADD），电子传递黄素蛋白基因（ETFA、ETFB 和 ETDH）的下一代测序均为阴性。全外显子组测序显示 SLC25A32 基因外显子 2 中的 c.272G>T（p.Gly91Val）纯合变异。这 3 名患者共享相同的变异，他们均接受核黄素补充治疗后表现出类似的临床和生化改善。迄今为止，这些是首例报道的低酮性低血糖而无先前报道的 SLC25A32 缺乏症患者的神经肌肉表型的患者。
