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Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency

European Journal of Human Genetics volume 30, pages 976–979 (2022)Cite this article

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Abstract

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.

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Authors and Affiliations

  1. Genetic and Developmental Medicine Clinic, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman

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

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  1. Bushra Al Shamsi
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  2. Fathiya Al Murshedi
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  3. Asila Al Habsi
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  4. Khalid Al-Thihli
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Contributions

Bushra AL Shamsi: drafting the manuscript, Khalid Al-Thihli and Fathiya Al-Murshedi: supervising writing the manuscript and medical care of patients, Asila Al-Habsi: the medical care of patients.

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Correspondence to Khalid Al-Thihli.

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Given the retrospective nature of this study, and since no identifying data are included in this manuscript ethical approval was not required for the purpose of this study. Clinical consent forms were obtained.

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The authors declare no competing interests.

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Al Shamsi, B., Al Murshedi, F., Al Habsi, A. et al. Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency. Eur J Hum Genet 30, 976–979 (2022). https://doi.org/10.1038/s41431-021-00995-7

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  • DOI: https://doi.org/10.1038/s41431-021-00995-7

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