Version 2.80

Description

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

Basic Part Properties

Part Name
Hydroxymethylglutaryl CoA lyase
Part Display Name
Hydroxymethylglutaryl CoA lyase
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
HMG-CoA Lyase

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP15649-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 羟甲基戊二酰 CoA 裂解酶
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
es-ES Spanish (Spain) Hidroximetilglutaril CoA liasa
it-IT Italian (Italy) Idrossimetilglutaril CoA liasi
tr-TR Turkish (Turkey) Hidroksimetilglutaril KoA liyaz
ru-RU Russian (Russian Federation) Гидроксиметилглутарил КоА лиаза
Synonyms: Гидроксиметилглутарил-КоА-лиаза;Гидроксиметилглутарил-CoA-лиаза
fr-BE French (Belgium) Hydroxymethylglutaryl-CoA lyase
fr-CA French (Canada) Hydroxymethylglutaryl-CoA lyase
nl-NL Dutch (Netherlands) hydroxymethylglutaryl-CoA-lyase
el-GR Greek (Greece) Υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάση
Synonyms: Υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάση