Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Clinical subtype Synonyms 2-methyl-3-hydroxybutyric aciduria, neonatal type Acyduria 2-metylo-3-hydroksymasłowa, typ noworodkowy Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA, typ noworodkowy Niedobór HSD10, typ noworodkowy Niedobór MHBD, typ noworodkowy 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type HSD10 deficiency, neonatal type MHBD deficiency, neonatal type ORPHA code 391457 OMIM code 300438 ICD10 code E72.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl