50759-0
Beta-N-acetylhexosaminidase.A [Enzymatic activity/mass] in Leukocytes
Active
Part Description
LP14296-5 Beta-N-acetylhexosaminidase.A
Beta-hexosaminidase subunit alpha (HEXA) is responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.[UniProt: P06965] Reduced or absent levels of HEXA and accumulation of GM2 gangliosides in the neuronal cells is characteristic of GM2-gangliosidosis 1 (GM2G1), and autosomal recessive lysosomal storage disease that leads to neurodegeneration and, in the infantile form, death in early childhood.[OMIM: 272800]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Beta-N-acetylhexosaminidase.A
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Long Common Name
- Beta-N-acetylhexosaminidase.A [Enzymatic activity/mass] in Leukocytes
- Short Name
- Hexosaminidase A WBC-cCnt
- Display Name
- Beta-N-acetylhexosaminidase.A (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Beta-N-acetylhexosaminidase.A, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.42 (MIN)
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
87544-3 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase panel [Enzymatic activity/mass] - Leukocytes |
87543-5 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Beta-Hexosaminidase /Leukozyten |
el-GR | Greek (Greece) | β-N-ακετυλοεξοζαμινιδάση.Α: Synonyms: A CCnt N β-N-ακετυλοεξοζαμινιδάση β-N-ακετυλοεξοζαμινιδάση.Α |
es-ES | Spanish (Spain) | Beta-N-acetilhexosaminidasa.A: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Beta-N-acetilhexosaminidasa.A: |
et-EE | Estonian (Estonia) | Beeta-N-atsetüülheksosaminidaas.A: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
fr-CA | French (Canada) | Bêta-N-acétylhexosaminidase.A: |
fr-FR | French (France) | Bêta N-hexosaminidase A: |
fr-BE | French (Belgium) | Béta-N-acétylhexosaminidase.A: |
it-IT | Italian (Italy) | Beta-N-acetilesosaminidasi.A: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | bèta-N-acetylhexosaminidase.A: Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A witte bloedcellen |
pt-BR | Portuguese (Brazil) | Beta-N-acetilhexosaminidase A: Synonyms: ; |
ru-RU | Russian (Russian Federation) | Бета-N-Ацетилгексозаминидаза.А: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Beta-N-asetilhekzosaminidaz.A: Synonyms: WBC |
zh-CN | Chinese (China) | Beta-N-乙酰己糖胺酶.A: Synonyms: A 型 B Beta-N-乙酰己糖胺酶 A; |
Example Units
Unit | Source |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
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