mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

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

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.

Signs and symptoms

• Elevated brain lactate level by MRS
• Generalized hypotonia
• Increased circulating lactate concentration
• Increased CSF lactate
• Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level
• Decreased activity of the pyruvate dehydrogenase complex
• Apnea
• Dystonia
• Hypotonia
• Vertical nystagmus

Also known as: ECHS1D