Details of Disease | DrugMAP

General Information of Disease (ID: DISTR78F)

Disease Name	HSD10 disease, neonatal type
Synonyms	2-methyl-3-hydroxybutyric aciduria, neonatal type; MHBD deficiency, neonatal type; HSD10 deficiency, neonatal type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
Definition	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.
Disease Hierarchy	DISCJYFW: HSD10 mitochondrial disease DISTR78F: HSD10 disease, neonatal type
Disease Identifiers	MONDO ID MONDO_0018323 UMLS CUI C5680026 MedGen ID 1842355 Orphanet ID 391457

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD17B10	DEGSPC9	Supportive	X-linked	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSD17B10	OT7RJON4	Supportive	X-linked	[1]
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References

1	HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J Inherit Metab Dis. 2012 Jan;35(1):81-9. doi: 10.1007/s10545-011-9415-4. Epub 2011 Nov 30.