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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/203750
http://purl.bioontology.org/ontology/OMIM/203750
|
|---|---|
| Preferred Name | ALPHA-METHYLACETOACETIC ACIDURIA |
| Synonyms |
MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
3-KTD DEFICIENCY
3-OXOTHIOLASE DEFICIENCY
MAT DEFICIENCY
BETA-KETOTHIOLASE DEFICIENCY
3-KETOTHIOLASE DEFICIENCY
2-METHYL-3-HYDROXYBUTYRIC ACIDEMIA
T2 DEFICIENCY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
3-KTD DEFICIENCY
3-OXOTHIOLASE DEFICIENCY
MAT DEFICIENCY
BETA-KETOTHIOLASE DEFICIENCY
3-KETOTHIOLASE DEFICIENCY
2-METHYL-3-HYDROXYBUTYRIC ACIDEMIA
T2 DEFICIENCY
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|---|---|
| prefLabel | ALPHA-METHYLACETOACETIC ACIDURIA
|
| Gene Symbol | ACAT1
|
| notation | 203750
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| Scope Statement | Infections may precipitate ketotic episodes [MISCELLANEOUS]
Caused by mutation in the mitochondrial acetoacetyl-CoA thiolase gene (ACAT1, 607809.0001) [MOLECULAR BASIS]
Patients with T2 deficiency and urinary abnormalities may be asymptomatic [MISCELLANEOUS]
Onset at 5-24 months [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 11q22.3-q23.1
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| tui | T047
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| cui | C1536500
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