HSD10 mitochondrial disease HSD10 disease, neonatal type MEDGEN:1842355 GARD:0017623 HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. MONDO:0018323 Orphanet:391457 HSD10 deficiency, neonatal type 2-methyl-3-hydroxybutyric aciduria, neonatal type UMLS:C5680026 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type MHBD deficiency, neonatal type