PMMIL - Overview: Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes

Test Catalog

Test Name

Test ID: PMMIL    
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: CDG-Ia or PMM2-CDG) and Ib (phosphomannose isomerase deficiency: CDG-Ib or MPI-CDG) as measured in leukocytes

 

Follow-up testing for patients with an abnormal transferrin isoform profile as determined by liquid chromatography-mass spectrometry (CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum)

Highlights

Congenital disorders of glycosylation (CDG) are a large and growing group of inborn errors of glycan metabolism that are clinically diverse, but most often present during infancy or childhood.

 

A diagnostic workup for a CDG should begin with transferrin analysis by liquid chromatography-mass spectrometry (CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum).

 

Follow-up testing of an abnormal transferrin isoform profile may include enzymatic analysis for the diagnosis of phosphomannomutase-2 deficiency (PMM2-CDG or CDG-Ia) and phosphomannose isomerase deficiency (MPI-CDG or CDG-Ib).

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Colorimetric

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

PMM-PMI, Leukocytes

Aliases Lists additional common names for a test, as an aid in searching

CDG (Congenital Disorders of Glycosylation)Type I
CDG-Ia
CDG-Ib
Congenital Disorders of Glycosylation (CDG)Type I
Phosphomannose Isomerase (PMI)
PMM (Phosphomannomutase)