Carbohydrate-Deficient Glycoprotein Syndrome

Overview

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Is a:

Disease or Syndrome

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.

Synonyms:

Carbohydrate Deficient Glycoprotein Syndrome
Carbohydrate-Deficient Glycoprotein Syndromes
Glycoprotein Syndrome, Carbohydrate Deficient
Glycoprotein Syndrome, Carbohydrate-Deficient
Glycoprotein Syndromes, Carbohydrate-Deficient
Syndrome, Carbohydrate-Deficient Glycoprotein
Syndromes, Carbohydrate-Deficient Glycoprotein

Broader Topics:

Carbohydrate Metabolism, Inborn Errors

Narrower Topics:

None

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