100735-0
Mannose-6-phosphate isomerase and phosphomannomutase 1 panel - Leukocytes
Active
78963-6 Mannose-6-phosphate isomerase [Enzymatic activity/mass] in Leukocytes
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 Descriptions
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 |
78970-1 Phosphomannomutase 1 [Enzymatic activity/mass] in Leukocytes
Part Descriptions
LP199552-3 Phosphomannomutase 1
Phosphomannomutase 1 (PMM1) is involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.It is encoded by the PMM1 gene, which is located on chromosome 22q13. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain. PMID: 16540464[UniProt: Q92871]
Source: Universal Protein Resource (UniProt) consortium
Fully-Specified Name
- Component
- Phosphomannomutase 1
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- PMM1 WBC-cCnt
- Display Name
- Phosphomannomutase 1 (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Phosphomannomutase 1, 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) | Fosfomanomutasa 1: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fosfomanomutasa 1: |
| fr-FR | French (France) | Phosphomannomutase 1: |
| it-IT | Italian (Italy) | Phosphomannomutase 1: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | fosfomannomutase 1: Synonyms: witte bloedcellen |
| tr-TR | Turkish (Turkey) | Fosfomannomutaz 1: Synonyms: WBC |
| zh-CN | Chinese (China) | 磷酸甘露糖变位酶 1: Synonyms: Ⅰ I PMM1 WBC; |
Example Units
| Unit | Source |
|---|---|
| mU/g{protein} | Example UCUM Units |