LP174560-5
3-Methylcrotonyl-CoA carboxylase deficiency
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 deficiency
- Part Display Name
- 3-Methylcrotonyl-CoA carboxylase deficiency
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-10-01
- Construct for LOINC Short Name
- 3-MCC deficiency
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 3-甲基巴豆酰基-辅酶 A 羧化酶缺陷 Synonyms: 3-甲基巴豆酰基-CoA 羧化酶缺陷 |
| es-ES | Spanish (Spain) | Deficiencia de 3-Metilcrotonil-CoA carboxilasa |
| it-IT | Italian (Italy) | 3-Metilcrotonil-CoA carbossilasi, deficit |
| tr-TR | Turkish (Turkey) | 3-Metilkrotonil-KoA karboksilaz yetmezliği |
| ru-RU | Russian (Russian Federation) | 3-Метилкротонил-КоА карбоксилаза недостаточность |
| nl-NL | Dutch (Netherlands) | 3-methylcrotonyl-CoA-carboxylasedeficiëntie Synonyms: 3-Methylcrotonyl-CoA carboxylase deficientie |
| fr-FR | French (France) | 3-méthylcrotonyl CoA carboxylase carence |
| pl-PL | Polish (Poland) | Niedobór Karboksylazy 3-metylokrotonylo-CoA Synonyms: 3-MCCD |
| el-GR | Greek (Greece) | ανεπάρκεια 3-μεθυλοκροτονυλο-CoA καρβοξυλάσης Synonyms: ανεπάρκεια 3-μεθυλοκροτονυλο-CoA καρβοξυλάσης |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://