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
Fully-Specified Name
- Component
- N-acetylgalactosamine-6-sulfatase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- 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
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.63
- Last Updated
- Version 2.63
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | N-acetilgalactosamina-6-sulfato sulfatasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | N-acetilgalactosamina-6-sulfatasa: |
et-EE | Estonian (Estonia) | N-atsetüülgalaktosamiin-6-sulfataas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | N-acétylgalactosamine-6-sulfatase: |
fr-FR | French (France) | Chondroïtine sulfatase: |
fr-BE | French (Belgium) | N-acétylgalactosamine-6-sulfatase: |
it-IT | Italian (Italy) | N-Acetilgalattosammina-6-Solfatasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | N-acetylgalactosamine-6-sulfatase: |
ru-RU | Russian (Russian Federation) | N-Ацетилгалактозамин-6-Сульфатаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | N-asetilgalaktozamin-6-Sülfataz: |
zh-CN | Chinese (China) | N-乙酰半乳糖胺-6-硫酸酯酶: Synonyms: GALNS; |
Example Units
Unit | Source |
---|---|
nmol/h/mL | Example UCUM Units |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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