About The Medical Condition Glycoprotein Syndromes, Carbohydrate-Deficient
Find the definition of the medical term Glycoprotein Syndromes, Carbohydrate-Deficient. Glycoprotein Syndromes, Carbohydrate-Deficient defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Glycoprotein Syndromes, Carbohydrate-Deficient
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What's The Definition Of The Medical Condition Glycoprotein Syndromes, Carbohydrate-Deficient?
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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