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Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is an inborn error of metabolism characterized by delayed psychomotor development, neurological degeneration, increased lactic acid, and brain lesions in structures of the brain known as the basal ganglia. It is one subtype of Leigh-Like syndrome. Only a few cases have being reported. Symptoms may include delayed motor and speech development, hearing problems, poor muscle tone (hypotonia), poor suck, and sporadic lack of breath (apnea). Other symptoms reported include abnormal eye movements (nystagmus), heart defects, brain anomalies, and abnormal movements. This condition is caused by mutations in the ECHS1 gene. It is inherited in an autosomal recessive pattern. There is only supportive treatment for the symptoms.
Source: GARD Last updated on 05-01-20
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