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Part Description

LP201749-1   3-Methylglutaconyl-CoA hydratase
3-methylglutaconyl-CoA hydratase [UniProt: Q13825] catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA. Deficiency of 3-methylglutaconyl-CoA hydratase leads to elevated levels of 3-methylglutaconic acid, resulting in metabolic acidosis and aciduria. Beginning in infancy to early childhood, patients with 3-methylglutaconyl-CoA hydratase deficiency have symptoms of developmental delay, dystonia, and spastic quadriparesis. The deficiency is caused by mutations in the AUH gene and is inherited in an autosomal recessive pattern.[OMIM: 250950] Source: Regenstrief LOINC

LOINC Names Get Info

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

Part Model Get Info

  • Component
    3-Methylglutaconyl-CoA hydratase
    LP201749-1
    • Analyte
      3-Methylglutaconyl-CoA hydratase
      LP201749-1
      • Component Numerator
        3-Methylglutaconyl-CoA hydratase
        LP201749-1
        • Component Numerator Core
          3-Methylglutaconyl-CoA hydratase
          LP201749-1
        • 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-methylglutakonyl-CoA-hydratáza:Katalytický obsah:Časový bod:Fibroblast:Kvantitativní:
el-GRGreek (Greece)3-μεθυλγλουτακονυλ-CoA υδρατάση:CCnt:Pt:Ινοβλάστες:Qn:
Synonyms: 3-μεθυλγλουτακονυλ-CoA υδρατάση CCnt CHEM Pt Qn Ινοβλάστες
es-ESSpanish (Spain)3-Metilglutaconil-CoA hidratasa:Contenido catalítico:Punto temporal:Fibroblastos:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)3-metilglutaconil-CoA hidratasa:Contenido catalítico:Punto temporal:Fibroblasto:Cuantitativo:
fr-FRFrench (France)3-méthylglutaconyl CoA hydratase:Catalytique/Masse:Ponctuel:Fibroblastes:Numérique:
it-ITItalian (Italy)3-metilglutaconil-CoA idratasi:CCnt:Pt:Fibroblasti:Qn:
Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio)
nl-NLDutch (Netherlands)3-methylglutaconyl-CoA-hydratase:enzymatische activiteit/massa:moment:fibroblast:kwantitatief:
pl-PLPolish (Poland)Hydrataza 3-metyloglutakonylo-CoA:zawartość katalityczna:punkt w czasie:fibroblasty:ilościowy:
zh-CNChinese (China)3-甲基戊烯二酰辅酶 A 水合酶:催化含量:时间点:成纤维细胞:定量型:
Synonyms: 3-甲基戊烯二酰-CoA 水合酶;3-甲基戊烯二酰基辅酶 A 水合酶 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
pmol/min/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=82219-7