Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)
Authors:
E. Marklová; Z. Albahri
Authors‘ workplace:
Dětská klinika LF UK a FN, Hradec Královépřednostka doc. MUDr. E. Pařízková, CSc.
Published in:
Čes-slov Pediat 2003; (7): 423-425.
Category:
Overview
Spectrum of age-dependent clinical signs and abnormal biochemical results (routine laboratory, serumglycoproteins and their isoforms proportion) underline the screening of congenital defects of glycosylation (CDG).Abnormalities found by histology and various imaging methods may be helpful for the diagnostics. Decrease ofparticular enzymes activity in leukocytes and mutation analysis are fundamental for demonstration and precisetyping of the defect.
Key words:
glycoproteins, defect of glycosylation, CDG, inherited metabolic disorders, diagnostics
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2003 Issue 7
Most read in this issue
- MCAD Deficiency - Our Experience with Four Symptomatic Patients
- Megaloblastic Anemia 1 (Imerslund-Gräsbeck)
- Tandem Mass Spectrometry - The Future of Newborn Screening of Inborn Errors of Metabolism
- Clinical and Molecular Analyses in Eight Children with Congenital Disorders of Glycosylation