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Preferred Name

GLUTARIC ACIDEMIA I
Synonyms

GLUTARIC ACIDURIA I
ID

http://purl.bioontology.org/ontology/OMIM/231670
altLabel

GLUTARIC ACIDURIA I

GLUTARYL-CoA DEHYDROGENASE DEFICIENCY

GA I

GA1
cui

C0268595
Gene Locus

19p13.2
Gene Symbol

GCDH
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012716

http://purl.bioontology.org/ontology/OMIM/MTHU012714

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU012711

http://purl.bioontology.org/ontology/OMIM/MTHU012713

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU006625

http://purl.bioontology.org/ontology/OMIM/MTHU037464

http://purl.bioontology.org/ontology/OMIM/MTHU012709

http://purl.bioontology.org/ontology/OMIM/MTHU012717

http://purl.bioontology.org/ontology/OMIM/MTHU012715

http://purl.bioontology.org/ontology/OMIM/MTHU012712

http://purl.bioontology.org/ontology/OMIM/MTHU012710

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU008396

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

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU000301

http://purl.bioontology.org/ontology/OMIM/MTHU028039

http://purl.bioontology.org/ontology/OMIM/MTHU004589

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

http://purl.bioontology.org/ontology/OMIM/MTHU028040

http://purl.bioontology.org/ontology/OMIM/MTHU000197
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

231670
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GLUTARIC ACIDEMIA I
Scope Statement

Prevalent in Old Order Amish of Lancaster County, Pennsylvania and Saulteaux/Ojibway Indians of Canada [MISCELLANEOUS]

Variable clinical presentation ranging from acute onset to normal adult [MISCELLANEOUS]

Onset of illness often associated with acute infection [MISCELLANEOUS]

Worldwide frequency of 1 in 100,000 infants [MISCELLANEOUS]

Caused by mutation in the glutaryl-CoA dehydrogenase gene (GCDH, 608801.0001) [MOLECULAR BASIS]
tui

T047
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