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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/231670
http://purl.bioontology.org/ontology/OMIM/231670
|
|---|---|
| Preferred Name | GLUTARIC ACIDEMIA I |
| Synonyms |
GLUTARIC ACIDURIA I
GA I
GLUTARYL-CoA DEHYDROGENASE DEFICIENCY
GA1
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GLUTARIC ACIDURIA I
GA I
GLUTARYL-CoA DEHYDROGENASE DEFICIENCY
GA1
|
|---|---|
| prefLabel | GLUTARIC ACIDEMIA I
|
| Gene Symbol | GCDH
|
| Scope Statement | Worldwide frequency of 1 in 100,000 infants [MISCELLANEOUS]
Onset of illness often associated with acute infection [MISCELLANEOUS]
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]
Caused by mutation in the glutaryl-CoA dehydrogenase gene (GCDH, 608801.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 19p13.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 231670
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268595
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |