88019-5

N-Acetylgalactosamine-6-Sulfatase [Enzymatic activity/volume] in DBS

Active

Part Description

LP14032-4 N-Acetylgalactosamine-6-Sulfatase
N-acetylgalactosamine-6-sulfatase (GLANS or GalN6S) [UniProt: P34059] is a lysosomal enzyme that removes 6-sulfate groups from a terminal N-acetylgalactosamine-6-sulfate in mucopolysaccharides such as keratan sulfate and chondroitin-6-sulfate. Loss of activity of this enzyme results in an accumulation of substrates and leads to mucopolysaccharidosis IV A (MPS IV A), an autosomal recessive lysosomal storage disease. PMID: 22940367 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: N-acetylgalactosamine-6-sulfatase:CCnc:Pt:Bld.dot:Qn:
Long Common Name: N-Acetylgalactosamine-6-Sulfatase [Enzymatic activity/volume] in DBS
Short Name: GALNS DBS-cCnc
Display Name: N-Acetylgalactosamine-6-Sulfatase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: N-Acetylgalactosamine-6-Sulfatase, Dried blood spot

Part Model Get Info

Component
N-Acetylgalactosamine-6-Sulfatase
LP14032-4
- Analyte
  N-Acetylgalactosamine-6-Sulfatase
  LP14032-4
  - Component Numerator
    N-Acetylgalactosamine-6-Sulfatase
    LP14032-4
    - Component Numerator Core
      N-Acetylgalactosamine-6-Sulfatase
      LP14032-4
    - 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
Bld.dot
LP21304-8
- System Core
  Bld.dot
  LP21304-8
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.63
Last Updated: Version 2.63 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	N-acetylgalaktosamin-6-sulfatáza:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GR	Greek (Greece)	Ν-ακετυλογαλακτοζαμίνη-6-σουλφατάση:CCnc:Pt:Bld.dot:Qn: Synonyms: Bld.dot CCnc CHEM N Pt Qn Αίμα Ν-ακετυλογαλακτοζαμίνη-6-σουλφατάση
es-ES	Spanish (Spain)	N-acetilgalactosamina-6-sulfato sulfatasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	N-acetilgalactosamina-6-sulfatasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	N-atsetüülgalaktosamiin-6-sulfataas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	N-acétylgalactosamine-6-sulfatase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Chondroïtine sulfatase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	N-acétylgalactosamine-6-sulfatase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	N-Acetilgalattosammina-6-Solfatasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	N-acetylgalactosamine-6-sulfatase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	N-Ацетилгалактозамин-6-Сульфатаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	N-asetilgalaktozamin-6-Sülfataz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	N-乙酰半乳糖胺-6-硫酸酯酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: GALNS;Morquio 氏病 A 型;Morquio 氏病, A 型;Morquio 病 A 型;Morquio 病, A 型;MPS VI A;N-乙酰氨基半乳糖-6-硫酸酯酶;N-乙酰软骨糖胺-6-硫酸酯酶;半乳糖-6-硫酸硫酸酯酶;芳基硫酸酯酶 B;软骨素硫酸酯酶;软骨素酶 N 型催化浓度(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;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
nmol/h/mL	Example UCUM Units

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CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=88019-5

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.