12914-8

Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total in Serum or Plasma

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/Beta-N-acetylhexosaminidase.total
Property: CFr
Time: Pt
System: Ser/Plas
Scale: Qn
Method

Additional Names

Long Common Name: Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total in Serum or Plasma
Short Name: Hexosaminidase A CFr SerPl
Display Name: Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total [Catalytic fraction]
Consumer Name Alpha Get Info: Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total, Blood

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 1.0j-a
Last Updated: Version 2.73 (MIN)
Change Reason: Updated System from Ser to Ser/Plas since this test can be performed on serum or plasma.
Order vs. Observation: Observation
Common Test Rank Get Info: 7410

Member of these Panels

LOINC	Long Common Name
87545-0	Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase panel - Serum or Plasma

Member of these Groups Get Info

LOINC Group	Group Name
LG1270-0	Beta-N-acetylhexosaminidase.A/Beta-N-acetylhexosaminidase.total\|CFr\|Pt\|ANYBldSerPl

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	β-N-ακετυλοεξοζαμινιδάση.Α/β-N-ακετυλοεξοζαμινιδάση.ολική:CFr:Pt:Ορός/Πλάσμα:Qn: Synonyms: CFr
es-AR	Spanish (Argentina)	hexosaminidasa.A/hexosaminidasa.total:fracción de masa:punto en el tiempo:suero/plasma:cuantitativo:
es-ES	Spanish (Spain)	Beta-N-acetilhexosaminidasa.A/Beta-n-acetilhexosaminidasa.total:Fracción Catalítica:Punto temporal:Suero o Plasma:Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Beta-N-acetilhexosaminidasa.A / Beta-N-acetilhexosaminidasa.total:Fracción catalítica:Punto temporal:Suero o Plasma:Cuantitativo:
et-EE	Estonian (Estonia)	Beeta-N-atsetüülheksosaminidaas.A/beeta-n-atsetüülheksosaminidaas.üld:CFr:Pt:S/P:Qn: Synonyms: Juhuslik Kvantitatiivne Plasma Seerum Seerum või plasma
fr-CA	French (Canada)	Bêta-N-acétylhexosaminidase.A/Bêta-N-acétylhexosaminidase.totale:Fraction catalytique:Temps ponctuel:Sérum/Plasma:Quantitatif:
fr-FR	French (France)	Bêta N-hexosaminidase A/Bêta N-hexosaminidases totales:Fraction catalytique:Ponctuel:Sérum/Plasma:Numérique:
fr-BE	French (Belgium)	Béta-N-acétylhexosaminidase.A/Bèta-N-acétylhexosaminidase.totale:Fraction catalytique:Temps ponctuel:Sérum/Plasma:Quantitatif:
it-IT	Italian (Italy)	Beta-N-acetilesosaminidasi.A/Beta-N-acetilesosaminidasi.totale:CFr:Pt:Siero/Plasma:Qn: Synonyms: Chimica Frazione Catalitica Plasma Punto nel tempo (episodio) Siero Siero o Plasma
ko-KR	Korean (Korea, Republic Of)	베타-N-아세틸헥소스아미니다아제.A/총베타-N-아세틸헥소스아미니다아제:촉매분획:검사시점:혈청:정량:
nl-NL	Dutch (Netherlands)	bèta-N-acetylhexosaminidase.A/bèta-n-acetylhexoaminidase.totaal:enzymatische fractie:moment:serum of plasma:kwantitatief: Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A
pt-BR	Portuguese (Brazil)	Beta-N-acetilhexosaminidase.A/Beta-N-acetilhexosaminidase.total:CFr:Pt:Soro:Qn: Synonyms: ; Hexosaminidase A; Sandoff disease; Hex A; B-NAH; GM2-gangliosidosis; Fr; Catalytic Fraction; Percent; Point in time; Random; Serum; SR; Quantitative; QNT; Quant; Quan; Tot; Totl; B; Chemistry
ru-RU	Russian (Russian Federation)	Бета-N-Ацетилгексозаминидаза.А/Бета-n-ацетилгексозаминидаза.общий:КаталФрак:ТчкВрм:Сыв/Плаз:Колич: Synonyms: Каталитическая фракция Количественный Плазма Сыворотка Сыворотка или Плазма Точка во времени;Момент
tr-TR	Turkish (Turkey)	Beta-N-asetilhekzosaminidaz.A/Beta-n-asetilhekzosaminidaz.total:KtlFr:Zmlı:Ser/Plaz:Kant:
uk-UA	Ukrainian (Ukraine)	Бета-N-ацетилгексозамінідаза.А/Бета-N-ацетилгексозамінідаза.загальна:Каталітична фракція:МоментЧасу:Сироватка/Плазма:Кількісно: Synonyms: B; Beta-hexosaminidase subunit alpha; B-NAH; Catalytic Fraction; Chemistry; GM2 Gangliosidoses; GM2-gangliosidosis; Hex A; Hex B; HEXA; Hexosaminidase; Hexosaminidase A; Percent; Pl; Plasma; Plsm; Point in time; QNT; Quan; Quant; Quantitative; Random; Sandhoff disease; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Tay Sachs Disease; Tot; Totl
zh-CN	Chinese (China)	Beta-N-乙酰己糖胺酶.A/Beta-n-乙酰氨基已糖苷酶.总计:催化分数:时间点:血清/血浆: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 Beta-n-乙酰氨基已糖苷酶（Beta-N-乙酰氨基己糖苷酶、B-NAH、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）.总计;Beta-n-乙酰己糖胺酶总计 N 型 β 全体数量全部共计化学;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;连续数值型标尺总总和总数总量总额时刻;随机;随意;瞬间汇总血清或血浆贝塔

Example Units

Unit	Source
%	Example UCUM Units
%	REGENSTRIEF

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