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Definition

An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis.

Acronym

HSD10MD

Synonyms

17-beta-hydroxysteroid dehydrogenase X deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
3-hydroxyacyl-CoA dehydrogenase II deficiency
3-hydroxyacyl-CoA dehydrogenase type 2 deficiency
3-hydroxyacyl-CoA dehydrogenase type-2 deficiency
3-hydroxyacyl-CoA dehydrogenase type II deficiency
CAMR
HSD17B10 deficiency
Mental retardation, X-linked, syndromic, 10
Mental retardation with chorioathetosis and abnormal behavior
MHBD deficiency
MRXS10

Keywords

Neurodegeneration