Carbohydrate Deficient Glycoprotein Syndrome

Definition

Definition of Carbohydrate Deficient Glycoprotein Syndrome
Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterized by the abnormal glycosylation of a number of serum glycoproteins. CDG-Ia results from deficiency of phosphomannomutase that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate in the cytosol. We report a case of CDG-Ia in an 11-month-old girl with developmental delay, failure to thrive, inverted nipples and abnormal fat pads. The abnormal pattern of transferrin glycosylation and phosphomannomutase activity assay confirmed the diagnosis of CDG type Ia.

Symptoms

Symptoms of Carbohydrate Deficient Glycoprotein Syndrome
The list below shows several known symptoms for Carbohydrate deficient glycoprotein syndrome: Dysmorphic features Hypotonia – weakness of the muscle Psychomotor retardation Strabismus – causes the eyes to be misaligned that result to both eyes looking in different direction. Disease of the liver There may be other symptoms that can be identified by the physician.

Causes

Causes of Carbohydrate Deficient Glycoprotein Syndrome
Consult with your doctor.

Diagnosis

Diagnosis of Carbohydrate Deficient Glycoprotein Syndrome
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Treatment

Treatment of Carbohydrate Deficient Glycoprotein Syndrome
Consult with your doctor.

Prognosis

Prognosis of Carbohydrate Deficient Glycoprotein Syndrome
Consult with your doctor.

Prevention

Prevention of Carbohydrate Deficient Glycoprotein Syndrome
Consult with your doctor.