Details of Disease | DrugMAP

General Information of Disease (ID: DIS9ORX6)

Disease Name	Isobutyryl-CoA dehydrogenase deficiency
Synonyms	Acad8 deficiency; acyl-CoaA dehydrogenase family, member 8, deficiency of; IBD deficiency; acyl-Coa dehydrogenase family, member 8, deficiency of; isobutyric aciduria; isobutyryl-CoA dehydrogenase deficiency
Definition	An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
Disease Hierarchy	DISCXXVK: Classic organic aciduria DIS9ORX6: Isobutyryl-CoA dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0012648 MESH ID C535541 UMLS CUI C1969809 OMIM ID 611283 MedGen ID 370754 Orphanet ID 79159 SNOMED CT ID 445274004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Limited	Biomarker	[1]
AUH	OT8VKBXX	Limited	Biomarker	[1]
ACAD8	OT3JI5GB	Definitive	Autosomal recessive	[2]
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References

1	Genotype-based databases for variants causing rare diseases.Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
2	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.