2444-8

Hydroxymethylglutaryl CoA lyase [Enzymatic activity/volume] in Serum

Active

Part Description

LP15649-4 Hydroxymethylglutaryl CoA lyase
Hydroxymethylglutaryl CoA lyase deficiency (HMG; also known as 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency and 3-Hydroxy-3-methylglutaric aciduria) is an inherited disorder in which the body is unable to process the amino acid leucine or make ketones properly. Within the first year of life, this condition causes episodes of vomiting, diarrhea, dehydration, lethargy, hypotonia, hypoglycemia, and metabolic acidosis. If untreated, this disorder can lead to breathing problems, convulsions, coma, and death. HMG deficiency is caused by mutations in the HMGCL gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: Hydroxymethylglutaryl CoA lyase:CCnc:Pt:Ser:Qn:
Long Common Name: Hydroxymethylglutaryl CoA lyase [Enzymatic activity/volume] in Serum
Short Name: HMG-CoA Lyase Ser-cCnc
Display Name: Hydroxymethylglutaryl CoA lyase (S) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Hydroxymethylglutaryl coA lyase, Blood

Part Model Get Info

Component
Hydroxymethylglutaryl CoA lyase
LP15649-4
- Analyte
  Hydroxymethylglutaryl CoA lyase
  LP15649-4
  - Component Numerator
    Hydroxymethylglutaryl CoA lyase
    LP15649-4
    - Component Numerator Core
      Hydroxymethylglutaryl CoA lyase
      LP15649-4
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
CCnc
LP6789-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Ser
LP7567-3
- System Core
  Ser
  LP7567-3
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 1.0
Last Updated: Version 2.68 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
ar-JO	Arabic (Jordan)	إنزيم هيدروكسي ميثيل جلوتاريل كو أي لياز في المصل ( بتقنية النشاط الإنزيمي / الحجم )
cs-CZ	Czech (Czechia)	Hydroxymethylglutaryl-CoA-lyáza:Katalytická koncentrace:Časový bod:Sérum:Kvantitativní:
el-GR	Greek (Greece)	Υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάση:CCnc:Pt:Ορός:Qn: Synonyms: CCnc CHEM Pt Qn Ορός Υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάση
es-AR	Spanish (Argentina)	hidroximetilglutaril CoA liasa:concentración catalítica:punto en el tiempo:suero:cuantitativo:
es-ES	Spanish (Spain)	Hidroximetilglutaril CoA liasa:Concentración Catalítica:Punto temporal:Suero:Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hidroximetilglutaril CoA liasa:Concentración catalítica:Punto temporal:Suero:Cuantitativo:
fr-CA	French (Canada)	Hydroxymethylglutaryl-CoA lyase:Concentration catalytique:Temps ponctuel:Sérum:Quantitatif:
fr-FR	French (France)	Hydroxyméthylglutaryl CoA lyase:Catalytique/Volume:Ponctuel:Sérum:Numérique:
fr-BE	French (Belgium)	Hydroxymethylglutaryl-CoA lyase:Concentration catalytique:Temps ponctuel:Sérum:Quantitatif:
it-IT	Italian (Italy)	Idrossimetilglutaril CoA liasi:CCnC:Pt:Siero:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Siero
ko-KR	Korean (Korea, Republic Of)	하이드록시메틸글루타릴 CoA 분해효소:촉매농도:검사시점:혈청:정량:
nl-NL	Dutch (Netherlands)	hydroxymethylglutaryl-CoA-lyase:enzymatische activiteit/volume:moment:serum:kwantitatief:
pl-PL	Polish (Poland)	Hydroksymetyloglutarylo CoA liaza:stężenie katalityczne:punkt w czasie:surowica:ilościowy: Synonyms: Liaza 3-hydroksy-3-metyloglutarylo-CoA;HMGCL
pt-BR	Portuguese (Brazil)	Hidroximetilglutaril CoA liase:CCnc:Pt:Soro:Qn: Synonyms: ; HMG-CoA Lyase; 3-hydroxy-3-methylglutarate-coa lyase; HMG-CoA lyase; Catalytic Concentration; Point in time; Random; Serum; SR; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Гидроксиметилглутарил КоА лиаза:КаталКонц:ТчкВрм:Сыв:Колич: Synonyms: Гидроксиметилглутарил-КоА-лиаза;Гидроксиметилглутарил-CoA-лиаза Каталитическая концентрация Количественный Сыворотка Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hidroksimetilglutaril KoA liyaz:KtlKons:Zmlı:Ser:Kant:
zh-CN	Chinese (China)	羟甲基戊二酰 CoA 裂解酶:催化浓度:时间点:血清:定量型: Synonyms: 3-羟基-3-甲基戊二酰 CoA 裂解酶;3-羟基-3-甲基戊二酰辅酶 A 裂解酶;3-羟基-3-甲基戊二醯辅酶 A 裂解酶;HMG-CoA lyase;HMG-CoA 裂解酶;羟甲基戊二酰辅酶 A 裂解酶催化浓度(单位体积);单位体积内酶的单位数化学;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

Example Units

Unit	Source
U/L	Example UCUM Units

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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://loinc.org/license for the full LOINC copyright and license.