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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/210200
http://purl.bioontology.org/ontology/OMIM/210200
|
|---|---|
| Preferred Name | 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY |
| Synonyms |
MCCD TYPE 1
MCC1 DEFICIENCY
MCC1D
METHYLCROTONYLGLYCINURIA TYPE I
3-METHYLCROTONYLGLYCINURIA I
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MCCD TYPE 1
MCC1 DEFICIENCY
MCC1D
METHYLCROTONYLGLYCINURIA TYPE I
3-METHYLCROTONYLGLYCINURIA I
|
|---|---|
| prefLabel | 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
|
| Gene Symbol |
MCCA
MCCC1
|
| Scope Statement | Not responsive to biotin treatment [MISCELLANEOUS]
Caused by mutation in the alpha subunit of the 3-methylcrotonyl-CoA carboxylase gene (MCCC1, 609010.0001) [MOLECULAR BASIS]
May present in infancy with episodes of severe metabolic decompensation [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Detected in 1/50,000 in neonatal screening programs [MISCELLANEOUS]
May be present in asymptomatic adults [MISCELLANEOUS]
Genetic heterogeneity (see MCC2 deficiency 210210) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q25-q27
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 210200
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4551505
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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 |