Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

ABSTRACT:

Objective

Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe the broad phenotypic spectrum and pathobiochemistry of individuals with autosomal-recessive ECHS1 deficiency.

Methods

Using exome sequencing, we identified ten unrelated individuals carrying compound heterozygous or homozygous mutations in ECHS1. Functional investigations in patient-derived fibroblast cell lines included immunoblotting, enzyme activity measurement, and a palmitate loading assay.

Results

Patients showed a heterogeneous phenotype with disease onset in the first year of life and course ranging from neonatal death to survival into adulthood. The most

SUBMITTER: Haack TB 

PROVIDER: S-EPMC4435704 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature