mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Term ID

DOID:0070540

Synonyms

• ECHS1D

Definition

A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. (2)

References

• GARD:13019
• MIM:616277
• NCI:C174218
• ORDO:653880
• UMLS_CUI:C4225391

Ontology

Human Disease   ( DOID:0070540 )