CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

Domain	Definition
Health	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. (references)
Source: compiled by the editor from various references; see credits.

Language		Translations for "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME"; alternative meanings/domain in parentheses.
French		syndrome des glycoprotéines déficientes en carbohydrates. (various references)

Pig Latin		arbohydrate-deficientcay ycoproteinglay yndromesay
Source: compiled by the editor from various translation references.

Specialty Definition: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME