Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease

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...

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Bibliographic Details
Main Authors: Zeinab S. Abdelkhalek, Shadia M. Hussein, Iman G. Mahmoud, Areef Ramadan, Mona A. Kamel, Marian Y. Girgis, Mohamed A. Elmonem
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Scientific Reports
Subjects:
Maple-syrup-urine disease; Sanger sequencing
Exome sequencing
Novel variant
Egypt
Online Access:https://doi.org/10.1038/s41598-024-78105-y

Internet

https://doi.org/10.1038/s41598-024-78105-y

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