62310-8

Galactosylceramidase [Enzymatic activity/volume] in DBS

Active

Part Description

LP14027-4 Galactosylceramidase
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46. Source: National Library of Medicine, MeSH 2006

Reference Information

Type	Source	Reference
Article	National Library of Medicine	Wang 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: Galactosylceramidase:CCnc:Pt:Bld.dot:Qn:
Long Common Name: Galactosylceramidase [Enzymatic activity/volume] in DBS
Short Name: GALC DBS-cCnc
Display Name: Galactosylceramidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Galactosylceramidase, Dried blood spot

Part Model Get Info

Component
Galactosylceramidase
LP14027-4
- Analyte
  Galactosylceramidase
  LP14027-4
  - Component Numerator
    Galactosylceramidase
    LP14027-4
    - Component Numerator Core
      Galactosylceramidase
      LP14027-4
    - 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
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
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 2.34
Last Updated: Version 2.61 (MIN)
Order vs. Observation: Both

Member of these Panels

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

Language Variants Get Info

Tag	Language	Translation
ar-JO	Arabic (Jordan)	الغالاكتوسيل سيراميداز في عينات الدم الجافة ( بتقنية النشط الإنزيمي / الحجم )
cs-CZ	Czech (Czechia)	Galaktosylceramidáza:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GR	Greek (Greece)	Γαλακτοσυλκεραμιδάση:CCnc:Pt:Bld.dot:Qn: Synonyms: Bld.dot CCnc CHEM Pt Qn Αίμα Γαλακτοσυλκεραμιδάση
es-ES	Spanish (Spain)	Galactosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Galactosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Galaktosüülkeramidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Galactosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Galattosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	galactosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Galaktozyloceramidaza:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: GALC
ru-RU	Russian (Russian Federation)	Галактозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Galaktozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	半乳糖苷神经酰胺酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: Beta-半乳糖脑苷沉积症;Krabbe 氏病;Krabbe 白质营养不良;Krabbe 脑白质病变;Krabbe 脑白质营养不良;β-半乳糖脑苷沉积症;克拉勃脑白质营养不良;半乳培脑苷脂累积病;半乳糖脑苷脂酶;球样细胞脑白质营养不良;脑白质营养不良催化浓度(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

Unit	Source
umol/L/h	Example UCUM Units

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.