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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/246450
http://purl.bioontology.org/ontology/OMIM/246450
|
|---|---|
| Preferred Name | 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY |
| Synonyms |
HL DEFICIENCY
HMGCLD
HMGCL DEFICIENCY
HYDROXYMETHYLGLUTARIC ACIDURIA
HMG-CoA LYASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HL DEFICIENCY
HMGCLD
HMGCL DEFICIENCY
HYDROXYMETHYLGLUTARIC ACIDURIA
HMG-CoA LYASE DEFICIENCY
|
|---|---|
| prefLabel | 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
|
| Gene Symbol | HMGCL
|
| Scope Statement | Variable features present during metabolic decompensation [MISCELLANEOUS]
Long-term complications may include mental retardation, seizures, hypotonia, and spasticity [MISCELLANEOUS]
Sensitivity to dietary leucine [MISCELLANEOUS]
Caused by mutation in the 3-hydroxy-3-methylglutaryl-Coenzyme A lyase gene (HMGCL, 613898.0001) [MOLECULAR BASIS]
Triggers for acute decompensation include infections, vaccinations, and dietary changes [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1pter-p33
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 246450
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1533587
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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 |