Details of Disease | DrugMAP

General Information of Disease (ID: DIS4MPYD)

Disease Name	HSD10 disease, infantile type
Synonyms	HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, classic type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type; HSD10 deficiency, infantile type; MHBD deficiency, classic type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; MHBD deficiency, infantile type
Definition	HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.
Disease Hierarchy	DISCJYFW: HSD10 mitochondrial disease DIS4MPYD: HSD10 disease, infantile type
Disease Identifiers	MONDO ID MONDO_0018322 UMLS CUI C5680025 MedGen ID 1843150 Orphanet ID 391428

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.