[Genetic errors of glycoprotein metabolism].
This is a review article on glycoprotein storage diseases. In each of the separate diseases there is a relatively characteristic combination of clinical lesions, enzyme deficiency and storage of glycoconjugates which form the basis of classification. For most of these disorders, demonstration of the enzymatic deficiency has led to accurate diagnosis of affected individuals recognition of variant and atypical forms, detection of carriers and prenatal diagnosis of affected fetuses. The studies have proved to be informative as to: 1) Identification of previously unrecognized diseases. 2) Identification of the metabolic products of the mutant genes. 3) Classification within a group. 4) Demonstration of genetic principles.
D000013:Congenital Abnormalities / Q000209:etiology; D005260:Female; D005808:Genes, Recessive; D006023:Glycoproteins / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008854:Microscopy, Electron; D011247:Pregnancy; D011296:Prenatal Diagnosis
D006023:Glycoproteins
Gli errori genetici del metabolismo delle glicoproteine.