Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Carbohydrate-Deficient Glycoprotein Syndrome Terms and Definitions

Carbohydrate-Deficient Glycoprotein Syndrome

Medical Definition:	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.
Guide Notes:	an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CARB DEFIC GLYCOPROTEIN SYNDROME
Previously Indexed:	Carbohydrate Metabolism, Inborn Errors (1991-1995),Glycoproteins (1977-1995)

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