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Article

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.

European journal of human genetics : EJHG - 1 Aug 2022

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34764427
DOI: 10.1038/s41431-021-00995-7
PMCID: PMC9349259

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