Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation
CDG Transferrin Analysis
Congenital disorders of glycosylation (CDGs) are a group of inherited diseases characterized by abnormal protein and lipid glycosylation. To date, over 120 separate genetic deficiencies have been linked to a CDG and the breadth of causative genes leads to highly variable clinical presentation with multi-systemic involvement. The severity and long term outcome is dependent on the specific causative CDG, and shows significant inter- and intra-familial variability. While a common phenotype cannot be reported, the majority of CDGs may be associated with a significant neurologic component including hypotonia, seizures, cerebellar hypoplasia and developmental delay/intellectual disability. Additional common features may include abnormal fat distribution, coagulation defects, feeding difficulties, gastrointestinal abnormalities, ocular abnormalities and cardiac abnormalities including cardiomyopathy.
CDG-Transferrin (Serum) with pathological findings, discovered with ProPhyl Air.
Horizontal isoelectric focusing with Sepalyte pH 4-6
from left: 1+2+3+11 control samples (negative)
Priv.-Doz. Dr. rer. nat. Christian Thiel
Zentrum für Kinder- und Jugendmedizin
Klinik Kinderheilkunde I
Im Neuenheimer Feld 669