Cited by 151Glycosylation and Glycoproteins ResearchMetabolism and Genetic DisordersLysosomal Storage Disorders Research

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Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

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Stibler, H, Jaeken, J·1990·Archives of Disease in Childhood

DOI 10.1136/adc.65.1.107PMC PMC1792388

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Abstract

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.

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Authors: Stibler, H., & Jaeken, J.
Affiliations: Karolinska University Hospital (SE)
Venue: Archives of Disease in Childhood
Publisher: BMJ
Published: 1990-01-01
Volume: 65
Issue: 1
Pages: 107-111
ISSN: 0003-9888 (ISSN-L)
1468-2044
DOI: 10.1136/adc.65.1.107
PMC: PMC1792388
OpenAlex: W2028736792
Cited by: 151
References: 28
Citations by year: 2025: 1 · 2024: 2 · 2023: 1 · 2021: 1 · 2020: 3 · 2018: 4 · 2017: 2 · 2016: 2 · 2015: 2 · 2014: 4 · 2013: 2 · 2012: 2
FWCI: 4.56
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Archives of Disease in Childhood (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Keywords: transferrin glycosylation, sialic acid deficiency, galactose deficiency, inborn errors of metabolism, isoelectric focusing, anion exchange chromatography
MeSH terms: Carbohydrate Metabolism, Inborn Errors, Child, Child, Preschool, Female, Growth Disorders, Humans, Isoelectric Focusing, Nervous System Diseases, Syndrome, Transferrin, Biomarkers

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Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

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