Version 2.77

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.
Source: Regenstrief LOINC

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

Fully-Specified Name

Cathepsin A

Additional Names

Short Name
Cathepsin A WBC-cCnt
Display Name
Cathepsin A (WBC) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Cathepsin A, White blood cells

Basic Attributes

First Released
Version 2.54
Last Updated
Version 2.54
Order vs. Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Catepsina A:Contenido catalítico:Punto temporal:Células sanguineas blancas:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Catepsina A:Contenido catalítico:Punto temporal:células blancas de la sangre:Cuantitativo:
fr-FR French (France) Cathepsine A:Catalytique/Masse:Ponctuel:Leucocytes:Numérique:
it-IT Italian (Italy) Catepsina A:CCnt:Pt:WBC:Qn:
Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) cathepsine A:enzymatische activiteit/massa:moment:leukocyten:kwantitatief:
Synonyms: witte bloedcellen
tr-TR Turkish (Turkey) Katepsin A:Ktlİçrk:Zmlı:Lökosit:Kant:
Synonyms: WBC
zh-CN Chinese (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

Unit Source
nmol/h/mg{protein} Example UCUM Units

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

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