Version 2.78

Description

Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Alpha-L iduronidase

Basic Part Properties

Part Display Name
Alpha-L-iduronidase
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
A-L-Iduronidase

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP14016-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) Alpha-L-艾杜糖苷酶
Synonyms: Alpha-L-艾杜糖醛酸苷酶;A-L-艾杜糖苷酶;A-L-艾杜糖醛酸苷酶;Hurler 氏病;Hurler 病;I 型粘多糖贮积病;Scheie 氏病;Scheie 病;α-L-艾杜糖苷酶;α-L-艾杜糖醛酸苷酶;α-L-艾牡糖醛酸酶;粘多糖代谢病 1 型;粘多糖代谢病 I 型;粘多糖第一型 S 分型（Scheie 症候群）;粘多糖贮积症 1 型;粘多糖贮积症 I 型
fr-CA French (Canada) Alpha-L-iduronidase
et-EE Estonian (Estonia) Alfa-L-iduronidaas
es-ES Spanish (Spain) Alfa-L-iduronidasa
it-IT Italian (Italy) Alfa-L-iduronidasi
tr-TR Turkish (Turkey) Alfa-L-iduronidaz
ru-RU Russian (Russian Federation) Альфа-L-идуронидазы
nl-NL Dutch (Netherlands) alfa-L-iduronidase
fr-BE French (Belgium) Alpha-L-iduronidase