Use

This test is used for diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes. It serves as a follow-up testing for patients with an abnormal type I CDG transferrin isoform profile. These disorders are a subset of inherited metabolic disorders that impact glycan metabolism, often presenting during infancy or childhood with various symptoms ranging from developmental delays to gastrointestinal issues. Early diagnosis is critical for management and potential intervention strategies.