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Part Description

LP201748-3   3-Methylcrotonyl-CoA carboxylase
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

LOINC Names Get Info

Fully-Specified Name
3-Methylcrotonyl-CoA carboxylase:CCnt:Pt:Fibroblasts:Qn:
Long Common Name
3-Methylcrotonyl-CoA carboxylase [Enzymatic activity/mass] in Fibroblast
Short Name
3-MCC Fib-cCnt
Display Name
3-Methylcrotonyl-CoA carboxylase (Fibroblast) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
3-Methylcrotonyl-CoA carboxylase, Fibroblast

Part Model Get Info

  • Component
    3-Methylcrotonyl-CoA carboxylase
    LP201748-3
    • Analyte
      3-Methylcrotonyl-CoA carboxylase
      LP201748-3
      • Component Numerator
        3-Methylcrotonyl-CoA carboxylase
        LP201748-3
        • Component Numerator Core
          3-Methylcrotonyl-CoA carboxylase
          LP201748-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    CCnt
    LP6790-2
  • Time
    Pt
    LP6960-1
  • System
    Fibroblasts
    LP7234-0
    • System Core
      Fibroblasts
      LP7234-0
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)3-methylkrotonyl-CoA-karboxyláza:Katalytický obsah:Časový bod:Fibroblast:Kvantitativní:
el-GRGreek (Greece)3-μεθυλοκροτονυλο-CoA καρβοξυλάση:CCnt:Pt:Ινοβλάστες:Qn:
Synonyms: 3-μεθυλοκροτονυλο-CoA καρβοξυλάση CCnt CHEM Pt Qn Ινοβλάστες
es-ESSpanish (Spain)3-Metilcrotonil-CoA carboxilasa:Contenido catalítico:Punto temporal:Fibroblastos:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)3-metilcrotonil-CoA carboxilasa:Contenido catalítico:Punto temporal:Fibroblasto:Cuantitativo:
fr-FRFrench (France)3-méthylcrotonyl CoA carboxylase:Catalytique/Masse:Ponctuel:Fibroblastes:Numérique:
it-ITItalian (Italy)3-metilcrotonil-CoA carbossilasi:CCnt:Pt:Fibroblasti:Qn:
Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio)
nl-NLDutch (Netherlands)3-methylcrotonyl-CoA-carboxylase:enzymatische activiteit/massa:moment:fibroblast:kwantitatief:
pl-PLPolish (Poland)Karboksylaza 3-metylokrotonylo-CoA:zawartość katalityczna:punkt w czasie:fibroblasty:ilościowy:
Synonyms: 3-MCCD
zh-CNChinese (China)3-甲基巴豆酰辅酶 A 羧化酶:催化含量:时间点:成纤维细胞:定量型:
Synonyms: 3-甲基巴豆酰-CoA 羧化酶;3-甲基巴豆酰基辅酶 A 羧化酶 Ⅲ III 三 催化含量(单位质量);单位质量的酶单位数 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叁 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 纤维原细胞;纤维母细胞

Example Units

UnitSource
nmol/h/mg{protein}Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=82218-9