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The carbohydrate‐deficient glycoprotein syndromes: An overview
Author(s) -
Jaeken J.,
Carchon H.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00714272
Subject(s) - golgi apparatus , endoplasmic reticulum , biology , glycosylation , transferrin , glycoprotein , heterozygote advantage , sialic acid , peroxisomal disorder , hemochromatosis , endocrinology , genetics , peroxisome , gene , allele
Summary The carbohydrate‐deficient glycoprotein (CDG) syndromes are a newly recognized family of diseases with autosomal recessive inheritance. The basic defects are probably in the glycosylation pathway (endoplasmic reticulum, Golgi apparatus or post‐Golgi). In the present state of our knowledge the central nervous system is always severely affected but nearly all other organs are involved to a variable degree. Like the peroxisomal disorders they also comprise dysmorphic features, the most typical being an abnormal distribution of subcutaneous adipose tissue. A reliable diagnostic test is isoelectric focusing of serum transferrin showing a cathodal shift as a consequence of the partial sialic acid deficiency. Prenatal diagnosis and heterozygote detection are not yet available. These diseases should be differentiated from secondary CDG syndromes such as classical galactosaemia.