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Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.

Part Description

LP14012-6   Alpha galactosidase A
Alpha (A) galactosidase is an enzyme used in sphingolipid metabolism. The deficiency of the enzyme leads to accumulation of various products that may lead to Fabry's disease, which is lysosomal storage disorder. Source: Regenstrief Institute

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

Part Model Get Info

  • Component
    Alpha galactosidase A
    LP14012-6
    • Analyte
      Alpha galactosidase A
      LP14012-6
      • Component Numerator
        Alpha galactosidase A
        LP14012-6
        • Component Numerator Core
          Alpha galactosidase A
          LP14012-6
        • 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)
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
ar-JOArabic (Jordan)ألفا جالاكتوزيداز أ في عينات الدم الجافة ( بتقنية النشاط الإنزيمي / الحجم )
cs-CZCzech (Czechia)Alfa-galaktosidáza A:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
de-ATGerman (Austria)Synonyms: Alpha-Galaktosidase /BT
el-GRGreek (Greece)Άλφα-γαλακτοσιδάση Α:CCnc:Pt:Bld.dot:Qn:
Synonyms: A Bld.dot CCnc CHEM Pt Qn Αίμα Άλφα-γαλακτοσιδάση Α
es-ESSpanish (Spain)Alfa galactosidasa A:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Alfa galactosidasa A:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EEEstonian (Estonia)Alfagalaktosidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CAFrench (Canada)Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FRFrench (France)Alpha galactosidase A:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BEFrench (Belgium)Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-ITItalian (Italy)Alfa galattosidasi A:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)alfa-galactosidase A:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PLPolish (Poland)Alfa galaktozydaza A:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
pt-BRPortuguese (Brazil)Alfa galactosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: ; A-Galactosidase; Morquio disease type B; MPS IV B; GM1-gangliosidosis; Alpha-D-galactosidase; Alpha galactosidase A; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Alfa; Chemistry
ru-RURussian (Russian Federation)Альфа галактозидаза A:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TRTurkish (Turkey)Alfa galaktozidaz A:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CNChinese (China)Alpha 半乳糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: A 型 A-D-半乳糖苷酶;A-D-半乳糖苷酶 A;Alpha 半乳糖苷酶 A;Alpha-D-半乳糖苷酶;Alpha-D-半乳糖苷酶 A;Alpha-半乳糖苷酶;Alpha-半乳糖苷酶 A;A-半乳糖苷酶;A-半乳糖苷酶 A;GM1-神经节苷脂沉积症;GM1-神经节苷脂贮积病;Morquio 氏病 B 型;Morquio 病 B 型;MPS IV B;α-D-半乳糖苷酶;α-D-半乳糖苷酶 A;α半乳糖苷酶;α-半乳糖苷酶;α半乳糖苷酶 A;α-半乳糖苷酶 A;半乳糖苷酶病;半乳糖苷酶缺乏病 α 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 阿尔法

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=55908-8