Version 2.77

Description

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

Basic Part Properties

Part Display Name
Mannose-6-phosphate isomerase
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-10-02
Construct for LOINC Short Name
M6PI

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP186037-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 甘露糖-6-磷酸异构酶
Synonyms: 磷酸甘露糖异构酶;MPI;M6PI;M-6-PI
es-ES Spanish (Spain) Manosa-6-fosfato isomerasa
it-IT Italian (Italy) Mannosio-6-fosfato isomerasi
tr-TR Turkish (Turkey) Mannoz-6-fosfat izomeraz
nl-NL Dutch (Netherlands) mannose-6-fosfaatisomerase