Version 2.77

Part Description

LP14016-7   Alpha-L-iduronidase
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

Fully-Specified Name

Component
Alpha-L-iduronidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
A-L-Iduronidase DBS-cCnc
Display Name
Alpha-L-iduronidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Alpha-L-iduronidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8 Mucopolysaccharidosis type II newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Alpha-Iduronidase/BT
es-ES Spanish (Spain) Alfa-L-iduronidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Alfa-L-iduronidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Alfa-L-iduronidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Alpha L-idurodinase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Alfa-L-iduronidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) alfa-L-iduronidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Alfa-L-iduronidase:#N/A:Pt:SgPapel:Qn:
Synonyms: ; A-L-Iduronidase; Hurler disease; Scheie disease; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Left; Alfa; Chemistry
ru-RU Russian (Russian Federation) Альфа-L-идуронидазы:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Alfa-L-iduronidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Alpha-L-艾杜糖苷酶:催化浓度:时间点:全血.斑点:定量型:
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 α 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 左 左侧 左侧（Left，L） 时刻;随机;随意;瞬间 血;血液 阿尔法

Example Units

Unit Source
umol/h/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=55909-6