2024
DOI: 10.1038/s41598-024-78105-y
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Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease

Zeinab S. Abdelkhalek,
Shadia M. Hussein,
Iman G. Mahmoud
et al.

Abstract: Maple Syrup Urine Disease (MSUD, OMIM# 248600) is an autosomal recessive inborn error of metabolism characterized by elevated branched chain amino acids (BCAA) leucine/isoleucine and valine in blood of affected children. The phenotypic and genotypic spectrum of MSUD is largely unreported in Egypt. We recruited ten patients (4 males/6 females, 2weeks-12years) from nine unrelated families with clinical and biochemical evidence of MSUD. We performed Sanger sequencing for the three most-commonly responsible genes:… Show more

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