ISOVALERIC ACIDEMIA

ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/243500

ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY

IVD DEFICIENCY

IVA

C0268575

15q14-q15

IVD

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU012088

http://purl.bioontology.org/ontology/OMIM/MTHU012083

http://purl.bioontology.org/ontology/OMIM/MTHU012081

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU012079

http://purl.bioontology.org/ontology/OMIM/MTHU012080

http://purl.bioontology.org/ontology/OMIM/MTHU000177

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU036911

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU012084

http://purl.bioontology.org/ontology/OMIM/MTHU012082

http://purl.bioontology.org/ontology/OMIM/MTHU067681

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU036658

Phenotype description, molecular basis known.

243500

3

pound

ISOVALERIC ACIDEMIA

Caused by mutation in the isovaleryl Co-A dehydrogenase gene (IVD, 607036.0001) [MOLECULAR BASIS]

Odor of 'sweaty feet' [MISCELLANEOUS]

Approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals [MISCELLANEOUS]

T047