1. Главная
  2. Ресурсы
  3. Библиотечный поиск
Carbohydratedeficient serumtransferrin in a newsystemic hereditarysyndrome. Helena StiblerJ Jaeken1990 год

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
статья из журнала

Полный текстСтраница публикацииПубликация в OpenAlex
Аннотация: Four patients with a new, inherited, complex developmental deficiency syndrome were studied. The syndrome affects the central and peripheral nervous system, and also the retina, liver, bone, adipose tissue, and genital organs. Abnormalities of glycoproteins, glycopeptide hormones, and lipids have been found in serum from these patients, the most pronounced being increased cathodal forms of transferrin. Isoforms of serum transferrin were therefore analysed qualitatively and quantitatively by isoelectric focusing and isocratic anion exchange chromatography, and the carbohydrate composition was determined in transferrin isolated by immune affinity chromatography. All the patients had about tenfold raised serum concentrations of isotransferrins with higher isoelectric points than normal. Similar findings, though less pronounced, were made in all the fathers and in one of the mothers. Half the transferrin in the patients was constantly present in two principal abnormal cathodal forms in approximately equal amounts. Carbohydrate determinations in purified transferrin showed quantitatively similar deficiencies of sialic acid, galactose, and N-acetylglucosamine, the mannose content being normal. The results suggest that either two or all of the normally four terminal trisaccharides in transferrin may be missing. A defect in the synthesis or catabolism, or both, of this trisaccharide, which is common to many secretory glyco-conjugates, is likely. Apart from providing a quantitative diagnostic method, the present findings may serve as a basis for further studies of the metabolic deficiency in this syndrome.
Год издания: 1990
Авторы: Helena Stibler, J Jaeken
Издательство: BMJ
Источник: Archives of Disease in Childhood
Ключевые слова: Metabolism and Genetic Disorders, Diabetes and associated disorders, Pancreatic function and diabetes
Другие ссылки: Archives of Disease in Childhood (PDF)
Archives of Disease in Childhood (HTML)
Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)
PubMed (HTML)