HSD10 disease, neonatal type

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HSD10 disease, neonatal type

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

HSD10 disease neonatal type is the most severe form of HSD10 disease a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period little psychomotor development seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.

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 October 2023.

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HSD10 disease, neonatal type?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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