Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency

Bushra Al Shamsi, Fathiya Al Murshedi, Asila Al Habsi, Khalid Al-Thihli*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

2 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)976-979
عدد الصفحات4
دوريةEuropean Journal of Human Genetics
مستوى الصوت30
رقم الإصدار8
المعرِّفات الرقمية للأشياء
حالة النشرPublished - أغسطس 2022

ASJC Scopus subject areas

  • ???subjectarea.asjc.1300.1311???
  • ???subjectarea.asjc.2700.2716???

بصمة

أدرس بدقة موضوعات البحث “Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا