HSD10 mitochondrial disease
HSD10 mitochondrial disease
Definition
A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
Also known as 17-beta-hydroxysteroid dehydrogenase 10 deficiency, 17-beta-hydroxysteroid dehydrogenase X deficiency, 2-methyl-3-hydroxybutyric aciduria, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, 3-hydroxyacyl-CoA dehydrogenase 2 deficiency, chorioathetosis with mental retardation and abnormal behavior, chorioathetosis with mental retardation and abnormal behaviour, HSD10 deficiency, HSD10 mitochondrial disease, HSD10 mitochondrial disease, X-linked dominant, HSD10MD, HSD17B10 deficiency, mental retardation with chorioathetosis and abnormal behavior, mental retardation with chorioathetosis and abnormal behaviour, mental retardation, X-linked, syndromic 10, mental retardation, X-linked, syndromic type 10, MHBD deficiency, MRXS10 — per MONDO