CDG syndrome type 2
Overview
Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
Symptoms
* Psychomotore retardation * Reduced muscle tone * Unusual facial appearance * Hooked nose * Large abnormal ears * Thin lips * Protruding upper jaw * Short neck * Abnormally positioned thumbs * Irregularly positioned toes * Ventricular septal defect * Severely impaired speech development * Retarded growth * Gastrointestinal problems * Frequent infections * Epilepsy * Enlarged gums * Large teeth * Kyphoscoliosis * Hollowed breast * Wasted distal limbs * Flat feet * Small testes * Blood abnormalities * Reduced immunity * Deficiency of clotting factors
Diagnosis
signs and symptoms of Carbohydrate deficiency glycoprotein syndrome type II may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Carbohydrate deficiency glycoprotein syndrome type II symptoms.