DeCS Server - List Exact Term

Search on:	CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
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DeCS

Descriptor English:

Carbohydrate-Deficient Glycoprotein Syndrome

Descriptor Spanish:

Síndrome de Glicoproteína con Deficiencia de Carbohidrato

Descriptor Portuguese:

Síndrome de Glicoproteínas com Deficiência de Carboidratos

Synonyms English:

Glycoprotein Syndrome, Carbohydrate-Deficient

Tree Number:

Definition English:

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.

Indexing Annotation English:

an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CARB DEFIC GLYCOPROTEIN SYNDROME

History Note English:

Allowable Qualifiers English:

Record Number:

32819

Unique Identifier:

D018981

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