HSD10 disease

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HSD10 disease

Synonyms: 2-methyl-3-hydroxybutyric aciduria | 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | HSD10 deficiency | MHBD deficiency

HSD10 disease is a rare life-threatening neurometabolic disease characterized by a progressive neurodegenerative course epilepsy retinopathy and progressive cardiomyopathy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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HSD10 disease?

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Clinical Trials

For a list of clinical trials in this disease area, please click here.