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

Test Catalog

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 isoelectric focusing or liquid chromatography-mass spectrometry (eg, 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 which are clinically diverse, but most often present during infancy.

 

A diagnostic work-up for a CDG begins with transferrin analysis by isoelectric focusing or liquid chromatography-mass spectrometry (eg, CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation.)

 

Follow-up testing typically includes enzymatic analysis for the diagnosis of CDG Ia (phosphomannomutase-2 deficiency: CDG-Ia or PMM2-CDG) and Ib (phosphomannose isomerase deficiency: CDG-Ib or MPI-CDG)

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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/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 (Congenital Disorders of Glycosylation)Type II
CDG-Ia
CDG-Ib
Congenital Disorders of Glycosylation (CDG)Type I
Congenital Disorders of Glycosylation (CDG)Type II
Phosphomannose Isomerase (PMI)
PMM (Phosphomannomutase)