Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation
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.
Patient 4 was a patient with a very severe defect in the Golgi apparatus. The child has also died in the meantime.
Priv.-Doz. Dr. rer. nat. Christian Thiel
Zentrum für Kinder- und Jugendmedizin
Klinik Kinderheilkunde I
Im Neuenheimer Feld 669
And for the support of the German Cancer Research Center Heidelberg