Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

What it is

A rare neurometabolic disorder characterized typically by severe neonatal or early-infantile encephalopathy, lactic acidosis and basal ganglia involvement. Majority of the patients present with severe developmental delay, hypotonia, dystonia, seizures, failure to thrive, cardiomyopathy, liver steatosis and/or hepatomegaly and sensorineural hearing loss. Optic atrophy and nystagmus may also be present. A subset of patients (mostly with an onset in infancy) may present with a milder phenotype including paroxymal dystonia, subtle gait abnormalities. In these patients motor and cognitive development is near normal and usually no major cardiomyopathy, liver failure or severe lactic crises are present.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Childhood, Infancy, Neonatal

Inheritance

Autosomal recessive

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references