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HSD10 mitochondrial disease

MONDO:0010327

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, HSD10 deficiency, HSD10 mitochondrial disease, HSD10 mitochondrial disease, X-linked dominant

13 clinical trials for this condition and its sub-types, 0 tagged with HSD10 mitochondrial disease itself.

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↑ Hereditary neurological disease (5791) ↑ Inborn mitochondrial metabolism disorder (127)

Sub-types of HSD10 mitochondrial disease

Including sub-types (13) Tagged with HSD10 mitochondrial disease (0)

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