Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.

ABSTRACT:

Background

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare autosomal recessive disorder affecting valine metabolism, with clinical severity ranging from neonatal death to survival into adulthood. Despite advances in understanding ECHS1D, the genetic basis remains underexplored, particularly in underrepresented populations.

Methods

This study aimed to investigate the clinical and genetic characteristics of ECHS1D in two unrelated Chinese families and identify novel pathogenic variants. Clinical and genetic data were collected, and whole-genome sequencing was performed to identify pathogenic variants in the ECHS1 gene.

Results

The first proband, a 15-month-old girl, presented with developmental delays and metabolic acidosis, with an MRI rev

SUBMITTER: Wu J 

PROVIDER: S-EPMC11973933 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature