Version 2.78

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

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
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
es-ES Spanish (Spain) Beta-N-acetilhexosaminidasa.A:Contenido catalítico:Punto temporal:Células sanguineas blancas:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Beta-N-acetilhexosaminidasa.A:Contenido catalítico:Punto temporal:células blancas de la sangre:Cuantitativo:
et-EE Estonian (Estonia) Beeta-N-atsetüülheksosaminidaas.A:CCnt:Pt:WBC:Qn:
Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid
fr-CA French (Canada) Bêta-N-acétylhexosaminidase.A:Contenu catalytique:Temps ponctuel:Leucocytes:Quantitatif:
fr-FR French (France) Bêta N-hexosaminidase A:Catalytique/Masse:Ponctuel:Leucocytes:Numérique:
fr-BE French (Belgium) Béta-N-acétylhexosaminidase.A:Contenu catalytique:Temps ponctuel:Leucocytes:Quantitatif:
it-IT Italian (Italy) Beta-N-acetilesosaminidasi.A:CCnt:Pt:WBC:Qn:
Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) bèta-N-acetylhexosaminidase.A:enzymatische activiteit/massa:moment:leukocyten:kwantitatief:
Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A witte bloedcellen
pt-BR Portuguese (Brazil) Beta-N-acetilhexosaminidase A:CCnt:Pt:Leucoc:Qn:
Synonyms: ; Hexosaminidase A; Sandoff disease; Hex A; B-NAH; GM2-gangliosidosis; Catalytic Content; Point in time; Random; Leukocytes; White blood cells; Leucocs; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RU Russian (Russian Federation) Бета-N-Ацетилгексозаминидаза.А:КаталСод:ТчкВрм:Лейкоциты:Колич:
Synonyms: Каталитическое содержание Количественный Точка во времени;Момент
tr-TR Turkish (Turkey) Beta-N-asetilhekzosaminidaz.A:Ktlİçrk:Zmlı:Lökosit:Kant:
Synonyms: WBC
zh-CN Chinese (China) Beta-N-乙酰己糖胺酶.A:催化含量:时间点:白细胞:定量型:
Synonyms: A 型 B Beta-N-乙酰己糖胺酶 A;Beta-N-乙酰氨基己糖苷酶 A;Beta-N-乙酰氨基己糖苷酶.A;Hex A;Sandoff 氏病;Sandoff 病;β-N-乙酰己糖胺酶 A;β-N-乙酰己糖胺酶.A;β-N-乙酰氨基己糖苷酶 A;β-N-乙酰氨基己糖苷酶.A;己糖胺酶 A;己糖胺酶.A;氨基己糖苷酶 A;氨基己糖苷酶.A Beta-N-乙酰氨基己糖苷酶;B-NAH;GM2-神经节苷脂沉积症;GM2-神经节苷脂贮积病;β-N-乙酰己糖胺酶;β-N-乙酰氨基己糖苷酶;己糖胺酶;氨基己糖苷酶 N 型 WBC;WBCs;白血球;白血细胞 β 催化含量(单位质量);单位质量的酶单位数 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 贝塔

Example Units

Unit Source
nmol/h/mg{protein} 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=50759-0