HSD10 disease, neonatal type
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:0010327
HSD10 mitochondrial disease
is_a
2-methyl-3-hydroxybutyric aciduria, neonatal type
exact
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
exact
HSD10 deficiency, neonatal type
exact
MHBD deficiency, neonatal type
exact