Medical Definition of Carbohydrate-deficient glycoprotein syndrome

1. 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. (12 Dec 1998)

Lexicographical Neighbors of Carbohydrate-deficient Glycoprotein Syndrome

carbocycle
carbocycles
carbocyclic
carbocyclic compound
carbocysteine
carbodiimide
carbodiimides
carboethoxy
carbofuran
carbogenic
carbohelicene
carbohemoglobin
carbohydrase
carbohydrases
carbohydrate
carbohydrate-deficient glycoprotein syndrome (current term)
carbohydrate-induced hyperlipaemia
carbohydrate conformation
carbohydrate dehydrogenases
carbohydrate epimerases
carbohydrate loading
carbohydrate metabolism
carbohydrate sequence
carbohydrate utilization test
carbohydrates
carbohydrates and hypoglycaemic agents
carbohydraturia
carbohydrazides
carbohydride
carbohydrides

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