HSD10 disease, neonatal type

MedGen UID:: 1842355
•Concept ID:: C5680026
•: Disease or Syndrome

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
Modes of inheritance:	X-linked dominant inheritance MedGen UID: 376232 •Concept ID: C1847879 • Finding Source: Orphanet A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. See: This record X-linked dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0018323
Orphanet:	ORPHA391457

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. [from ORDO]