Carbohydrate-deficient glycoprotein syndrome

From WikiMD's Wellness Encyclopedia

An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.

Carbohydrate-deficient glycoprotein syndrome Resources

Contributors: Prab R. Tumpati, MD