About The Medical Condition Carbohydrate-Deficient Glycoprotein Syndromes
Find the definition of the medical term Carbohydrate-Deficient Glycoprotein Syndromes. Carbohydrate-Deficient Glycoprotein Syndromes defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Carbohydrate-Deficient Glycoprotein Syndromes
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What's The Definition Of The Medical Condition Carbohydrate-Deficient Glycoprotein Syndromes?
An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors.
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