76027-2
Mannose-6-phosphate isomerase [Enzymatic activity/mass] in Fibroblast
Active
Term Description
Mannose-6-phosphate isomerase (MPI) levels are measured in fibroblasts for the diagnosis of congenital disorders of glycosylation (CDG), including CDG types Ia and Ib (phosphomannose isomerase deficiency, or MPI-CDG).
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
LOINC Names Get Info
- Fully-Specified Name
- Mannose-6-phosphate isomerase:
CCnt: Pt: Fibroblasts: Qn: - Long Common Name
- Mannose-6-phosphate isomerase [Enzymatic activity/mass] in Fibroblast
- Short Name
- M6PI Fib-cCnt
- Display Name
- Mannose-6-phosphate isomerase (Fibroblast) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Mannose-6-phosphate isomerase, Fibroblast
Part Model Get Info
- Component
- Mannose-6-phosphate isomerase
LP186037-0
- Analyte
- Mannose-6-phosphate isomerase
LP186037-0
- Component Numerator
- Mannose-6-phosphate isomerase
LP186037-0
- Component Numerator Core
- Mannose-6-phosphate isomerase
LP186037-0
- 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
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Fibroblasts
LP7234-0
- System Core
- Fibroblasts
LP7234-0
- Super System
- NULL
- Scale
- Qn
LP7753-9
- Method
- NULL
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.54 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Manóza-6-fosfátizomeráza: |
| el-GR | Greek (Greece) | Ισομεράση 6-φωσφορικής μαννόζης: Synonyms: CCnt CHEM Pt Qn Ινοβλάστες Ισομεράση 6-φωσφορικής μαννόζης Μαννόζη Φωσφορικό |
| 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 Fibroblasto Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | mannose-6-fosfaatisomerase: |
| tr-TR | Turkish (Turkey) | Mannoz-6-fosfat izomeraz: |
| zh-CN | Chinese (China) | 甘露糖-6-磷酸异构酶: Synonyms: i Phos; |
Example Units
| Unit | Source |
|---|---|
| nmol/min/mg{protein} | Example UCUM Units |
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://