Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

ABSTRACT:

Background

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by variants in any of the following genes: BCKDHA, BCKDHB, and DBT gene. Previous reports have highlighted a variety of common causing genes and variants among different ethnic groups affected by MSUD. This study is the first to describe the molecular characteristics, potential common variants, clinical phenotypes, and treatment outcomes of 20 Thai MSUD patients before the implementation of expanded newborn screening in Thailand.

Results

A cross-sectional, multicenter study was conducted, including twenty Thai MSUD patients from 1997 to 2023. Most of the patients presented with classic neonatal onset (95%). The mortality rate was 20%, while global developmental delay was obser

SUBMITTER: Lakkhana P 

PROVIDER: S-EPMC11515341 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature