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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

LOINC Names Get Info

Fully-Specified Name
Beta-N-acetylhexosaminidase.A:CCnc:Pt:Bld.dot:Qn:
Long Common Name
Beta-N-acetylhexosaminidase.A [Enzymatic activity/volume] in DBS
Short Name
Hexosaminidase A DBS-cCnc
Display Name
Beta-N-acetylhexosaminidase.A (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Beta-N-acetylhexosaminidase.A, Dried blood spot

Part Model Get Info

  • Component
    Beta-N-acetylhexosaminidase.A
    LP14296-5
    • Analyte
      Beta-N-acetylhexosaminidase.A
      LP14296-5
      • Component Numerator
        Beta-N-acetylhexosaminidase.A
        LP14296-5
        • Component Numerator Core
          Beta-N-acetylhexosaminidase.A
          LP14296-5
        • 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
  • 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 2.54
Last Updated
Version 2.61 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Beta-N-acetylhexosaminidáza.A:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GRGreek (Greece)β-N-ακετυλοεξοζαμινιδάση.Α:CCnc:Pt:Bld.dot:Qn:
Synonyms: A Bld.dot CCnc CHEM N Pt Qn Αίμα β-N-ακετυλοεξοζαμινιδάση β-N-ακετυλοεξοζαμινιδάση.Α
es-ESSpanish (Spain)Beta-N-acetilhexosaminidasa.A:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Beta-N-acetilhexosaminidasa.A:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EEEstonian (Estonia)Beeta-N-atsetüülheksosaminidaas.A:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CAFrench (Canada)Bêta-N-acétylhexosaminidase.A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FRFrench (France)Bêta N-hexosaminidase A:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BEFrench (Belgium)Béta-N-acétylhexosaminidase.A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-ITItalian (Italy)Beta-N-acetilesosaminidasi.A:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)bèta-N-acetylhexosaminidase.A:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A
pl-PLPolish (Poland)Beta-N-acetyloheksoaminidaza.A:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: N-acetylo-beta-heksozoaminidaza A
ru-RURussian (Russian Federation)Бета-N-Ацетилгексозаминидаза.А:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TRTurkish (Turkey)Beta-N-asetilhekzosaminidaz.A:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CNChinese (China)Beta-N-乙酰己糖胺酶.A:催化浓度:时间点:全血.斑点: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 β 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 贝塔

Example Units

UnitSource
nmol/h/mLExample UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=80425-2