Term Description

Cathepsin A enzyme activity in leukocytes is measured as part of a diagnostic work-up for galactosialidosis. Patients with galactosialidosis will have decreased activity of the protective protein as well as decreased neuraminidase and β-galactosidase activity in leukocytes (and/or fibroblasts). Sequencing of the CTSA gene is performed for detection of disease-causing mutations.

Part Description

LP199573-9   Cathepsin A
Cathepsin A (Lysosomal protective protein) [UniProt: P10619] is encoded by the CTSA gene [NCBI Gene ID: CTSA] and active in lysosomes where it acts as a protease as well as a protective protein. Patients deficient in cathepsin A due to mutations in the CTSA gene have symptoms of galactosialidosis, an autosomal recessive lysosomal storage disease characterized by combined deficiency of β-galactosidase and neuraminidase. PMID: 8725271 Normally, the protein forms a complex with neuraminidase 1 and elastin binding protein, forming the elastin binding protein receptor. Many CTSA mutations disrupt the protein structure of cathepsin A, impairing its ability to join with these other proteins. As a result, they are not functional or break down prematurely, which is thought to causes the signs and symptoms of galactosialidosis.[MedlinePlus Condition: Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Cathepsin A:CCnt:Pt:WBC:Qn:
Long Common Name
Cathepsin A [Enzymatic activity/mass] in Leukocytes
Short Name
Cathepsin A WBC-cCnt
Display Name
Cathepsin A (WBC) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Cathepsin A, White blood cells

Part Model Get Info

  • Component
    Cathepsin A
    LP199573-9
    • Analyte
      Cathepsin A
      LP199573-9
      • Component Numerator
        Cathepsin A
        LP199573-9
        • Component Numerator Core
          Cathepsin A
          LP199573-9
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    CCnt
    LP6790-2
  • Time
    Pt
    LP6960-1
  • System
    WBC
    LP7720-8
    • System Core
      WBC
      LP7720-8
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Katepsin A:Katalytický obsah:Časový bod:Leukocyty:Kvantitativní:
el-GRGreek (Greece)Καθεψίνη A:CCnt:Pt:Αριθμός λευκών αιμοσφαιρίων:Qn:
Synonyms: A CCnt CHEM Pt Qn Αριθμός λευκών αιμοσφαιρίων Καθεψίνη A
es-ESSpanish (Spain)Catepsina A:Contenido catalítico:Punto temporal:Células sanguineas blancas:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Catepsina A:Contenido catalítico:Punto temporal:células blancas de la sangre:Cuantitativo:
fr-FRFrench (France)Cathepsine A:Catalytique/Masse:Ponctuel:Leucocytes:Numérique:
it-ITItalian (Italy)Catepsina A:CCnt:Pt:WBC:Qn:
Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio)
nl-NLDutch (Netherlands)cathepsine A:enzymatische activiteit/massa:moment:leukocyten:kwantitatief:
Synonyms: witte bloedcellen
pl-PLPolish (Poland)Katepsyna A:zawartość katalityczna:punkt w czasie:leukocyty:ilościowy:
tr-TRTurkish (Turkey)Katepsin A:Ktlİçrk:Zmlı:Lökosit:Kant:
Synonyms: WBC
zh-CNChinese (China)组织蛋白酶 A:催化含量:时间点:白细胞:定量型:
Synonyms: A 型 CTA;组织蛋白酶 A;Cathepsin A WBC;WBCs;白血球;白血细胞 催化含量(单位质量);单位质量的酶单位数 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

Example Units

UnitSource
nmol/h/mg{protein}Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78958-6