Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (ECHS1D) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
Patients with ECHS1 deficiency may present with a spectrum of clinical manifestations. The age of onset is soon after birth in a majority of reported individuals.
ECHS1 deficiency is caused by compound heterozygous variants in the ECHS1 gene on the long arm (10q26.3) of chromosome 10. The diagnosis of ECHS1 deficiency is established in a proband by identification of biallelic pathogenic variants in ECHS1 with a combination of biochemical testing and/or phenotypic findings.
Genetics - Molecular Pathology
MOLP
deficiency
ECHS1
enoyl
hydratase
inborn error of
metabolism
Mitochondria
mitochondrial
short chain
4 weeks