Version 2.80

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

Fully-Specified Name

Component
Hydroxymethylglutaryl CoA lyase
Property
CCnc
Time
Pt
System
Ser
Scale
Qn
Method

Additional Names

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

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
el-GR Greek (Greece) Υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάση:CCnc:Pt:Ορός:Qn:
Synonyms: CCnc
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:
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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=2444-8