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