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Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.

Part Description

LP14013-4   Acid alpha glucosidase
Alpha (A) glucosidase is an enzyme found in tissue fibroblasts that is useful for delineatig the reason for muscle wasting and ruling out Pompe's disease. 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
Acid alpha glucosidase:CCnc:Pt:Bld.dot:Qn:
Long Common Name
Acid alpha glucosidase [Enzymatic activity/volume] in DBS
Short Name
Acid A-Glucosidase DBS-cCnc
Display Name
Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Acid alpha glucosidase, Dried blood spot

Part Model Get Info

  • Component
    Acid alpha glucosidase
    LP14013-4
    • Analyte
      Acid alpha glucosidase
      LP14013-4
      • Component Numerator
        Acid alpha glucosidase
        LP14013-4
        • Component Numerator Core
          Acid alpha glucosidase
          LP14013-4
        • 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
  • 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
cs-CZCzech (Czechia)Kyselá alfa-glukosidáza:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
de-ATGerman (Austria)Synonyms: Alpha-Glucosidase /BT
el-GRGreek (Greece)Όξινη άλφα γλυκοσιδάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: Bld.dot CCnc CHEM Pt Qn Αίμα Γλυκοσιδάση Όξινη άλφα γλυκοσιδάση
es-ESSpanish (Spain)Alfa glucoxidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Alfa glucosidasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EEEstonian (Estonia)Alfaglükosidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CAFrench (Canada)Alpha-glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FRFrench (France)Alpha glucosidase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BEFrench (Belgium)Alpha glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-ITItalian (Italy)Acido alfa glucosidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)zure alfa-glucosidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PLPolish (Poland)Kwaśna alfa-glukozydaza:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: Glukozydaza Kwaśna alfa-glukozydaza
pt-BRPortuguese (Brazil)Alfa glucosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; A-Glucosidase; Pompe disease; GAA; Alpha-1,4-glucosidase; Acid maltase; 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)Кислая альфа глюкозидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TRTurkish (Turkey)Asit alfa glukozidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CNChinese (China)Alpha 葡糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Alpha 葡萄糖苷酶;Alpha-1,4-葡糖苷酶;Alpha-1,4-葡萄糖苷酶;Alpha-葡糖苷酶;Alpha-葡萄糖苷酶;A-葡糖苷酶;A-葡萄糖苷酶;GAA;Pompe 氏病;Pompe 病;α-1,4-葡糖苷酶;α-1,4-葡萄糖苷酶;α葡糖苷酶;α-葡糖苷酶;α葡萄糖苷酶;α-葡萄糖苷酶;酸性麦牙糖酶;酸性麦芽糖酵素;酸性麦芽糖酶;麦牙糖酶;麦芽糖酵素;麦芽糖酶 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 葡糖基蔗糖酶;葡萄糖苷酶;葡萄糖转化酶;麦牙糖酶;麦芽糖酶;麦芽糖酶-葡糖淀粉酶;麦芽糖酶-葡糖糖化酶 血;血液 酸 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=55827-0