Details of Disease | DrugMAP

General Information of Disease (ID: DISXIPQ9)

Disease Name	3-hydroxyisobutyric aciduria
Synonyms	disorder of valine metabolism; 3-hydroxyisobutyric aciduria
Definition	3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.
Disease Hierarchy	DIST3QU6: Valine metabolism disease DISCXXVK: Classic organic aciduria DISOGOR1: Inborn disorder of branched-chain amino acid metabolism DISXIPQ9: 3-hydroxyisobutyric aciduria
Disease Identifiers	MONDO ID MONDO_0009371 MESH ID C535312 UMLS CUI C0342737 OMIM ID 236795 MedGen ID 90996 Orphanet ID 939 SNOMED CT ID 237957007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HIBADH	OTCMMMIZ	Limited	Autosomal recessive	[1]
ALDH6A1	OT8LCZCT	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. J Inherit Metab Dis. 2012 May;35(3):437-42. doi: 10.1007/s10545-011-9381-x. Epub 2011 Aug 24.