78963-6
Mannose-6-phosphate isomerase [Enzymatic activity/mass] in Leukocytes
Active
Term Description
Mannose-6-phosphate isomerase (MPI) levels are measured in leukocytes for the diagnosis of congenital disorder of glycosylation Ib (phosphomannose isomerase deficiency [CDG-Ib or MPI-CDG]).
Source: Regenstrief LOINC
Part Description
LP186037-0 Mannose-6-phosphate isomerase
Mannose-6-phosphate isomerase, also known as phosphomannose isomerase, catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate. It is encoded by the MPI gene, which is located on chromosome 15q24.1. Mannose-6-phosphate isomerase deficiency is the cause of congenital disorder of glycosylation type Ib (CDG Ib), an autosomal recessive disorder characterized by chronic diarrhea with failure to thrive, protein-losing enteropathy, and coagulopathy. CDG Ib is different from the other CDGs in that it does not have significant central nervous system involvement. [OMIM: 602579]
Source: Regenstrief LOINC, OMIM: 602579
Fully-Specified Name
- Component
- Mannose-6-phosphate isomerase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- M6PI WBC-cCnt
- Display Name
- Mannose-6-phosphate isomerase (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Mannose-6-phosphate isomerase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
100735-0 | Mannose-6-phosphate isomerase and phosphomannomutase 1 panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Manosa-6-fosfato isomerasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Isomerasa manosa-6-fosfato: |
fr-FR | French (France) | Mannose-6-phosphate isomérase: |
it-IT | Italian (Italy) | Mannosio-6-fosfato isomerasi: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | mannose-6-fosfaatisomerase: Synonyms: witte bloedcellen |
tr-TR | Turkish (Turkey) | Mannoz-6-fosfat izomeraz: Synonyms: WBC |
zh-CN | Chinese (China) | 甘露糖-6-磷酸异构酶: Synonyms: i Phos; |
Example Units
Unit | Source |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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