Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/611283 http://purl.bioontology.org/ontology/OMIM/611283
Preferred Name	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Synonyms	IBDD IBD DEFICIENCY ACAD8 DEFICIENCY ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IBDD IBD DEFICIENCY ACAD8 DEFICIENCY ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF
prefLabel	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Gene Symbol	ACAD8
Scope Statement	Some patients identified by newborn screening may be asymptomatic in childhood [MISCELLANEOUS] Caused by mutation in the acyl-CoA dehydrogenase family, member 8 gene (ACAD8, 604773.0001) [MOLECULAR BASIS] Favorable response to carnitine therapy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU065728 http://purl.bioontology.org/ontology/OMIM/MTHU011138 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU036393 http://purl.bioontology.org/ontology/OMIM/MTHU065727 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	11q25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611283
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1969809
OMIM Entry Type	3
OMIM MimType Value	pound

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