LP201748-3
3-Methylcrotonyl-CoA carboxylase
Active
Description
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an inherited disorder characterized by inadequate levels of an enzyme that helps break down the amino acid leucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include feeding difficulties, vomiting, diarrhea, lethargy, and hypotonia. If untreated, this disorder can lead to delayed development, seizures, and coma. 3-methylcrotonyl-CoA carboxylase deficiency is caused by mutations in the MCCC1 or MCCC2 gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- 3-Methylcrotonyl-CoA carboxylase
- Part Display Name
- 3-Methylcrotonyl-CoA carboxylase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-10-27
- Construct for LOINC Short Name
- 3-MCC
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Metilcrotonil-CoA carboxilasa |
| zh-CN | Chinese (China) | 3-甲基巴豆酰辅酶 A 羧化酶 Synonyms: 3-甲基巴豆酰-CoA 羧化酶; |
| nl-NL | Dutch (Netherlands) | 3-methylcrotonyl-CoA-carboxylase |
| it-IT | Italian (Italy) | 3-metilcrotonil-CoA carbossilasi |
| el-GR | Greek (Greece) | 3-μεθυλοκροτονυλο-CoA καρβοξυλάση Synonyms: 3-μεθυλοκροτονυλο-CoA καρβοξυλάση |
LOINC Copyright
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