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Part Description

LP15604-9   Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45. Source: National Library of Medicine, MeSH 2006

Reference Information

TypeSourceReference
ArticleNational Library of MedicineWang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. PMID: 21502868 Genet Med

LOINC Names Get Info

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

Part Model Get Info

  • Component
    Glucosylceramidase
    LP15604-9
    • Analyte
      Glucosylceramidase
      LP15604-9
      • Component Numerator
        Glucosylceramidase
        LP15604-9
        • Component Numerator Core
          Glucosylceramidase
          LP15604-9
        • 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 2.29
Last Updated
Version 2.70 (MIN)
Change Reason
Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
Order vs. Observation
Both

Member of these Panels

LOINCLong Common Name
105458-4Lysosomal and peroxisomal storage disorders panel - DBS
62300-9Lysosomal disorders newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Glukosylceramidáza:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
de-DEGerman (Germany)Beta-Glucosidase:Katalytische Konzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
el-GRGreek (Greece)Γλυκοζυλοκεραμιδάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: Bld.dot CCnc CHEM Pt Qn Αίμα Γλυκοζυλοκεραμιδάση
es-ESSpanish (Spain)Glucosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Glucosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EEEstonian (Estonia)Glükosüülkeramidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CAFrench (Canada)Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FRFrench (France)Glucosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BEFrench (Belgium)Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-ITItalian (Italy)Glucosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)glucosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PLPolish (Poland)Ceramidaza glukozylowa:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: Ceramidaza glukozylowa
pt-BRPortuguese (Brazil)Beta glucosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; B-Glucosidase; Gaucher disease; Glucocerebrosidase; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RURussian (Russian Federation)Глюкозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TRTurkish (Turkey)Glukozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CNChinese (China)葡糖神经酰胺酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Beta 葡糖脑苷脂酶;Beta-葡糖脑苷脂酶;B-葡糖脑苷脂酶;β-葡糖脑苷脂酶;葡糖基神经酰胺酶;葡糖基苷酰鞘氨醇酶;葡萄糖基神经酰胺酶 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

Example Units

UnitSource
umol/L/hExample UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=55917-9