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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
HSD10 disease, neonatal type?
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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).
Louisiana Metabolic Disorders Coalition
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Curing single-gene disorders
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