CDG Transferrin

CDG Transferrin

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.

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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
Universitätsklinikum Heidelberg
Zentrum für Kinder- und Jugendmedizin
Klinik Kinderheilkunde I
Analysezentrum III
CDG-Diagnostik/ Glykosylierungsforschung
Im Neuenheimer Feld 669
D-69120 Heidelberg

And for the support of the German Cancer Research Center Heidelberg