Biomedical subjects
Publications and source records attributed to L Dorland.
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360-MHz proton nuclear magnetic resonance spectra were recorded of 10 sialyl-oligosaccharides isolated from urine of sialidosis patients. Their structures are related to the complex asparagine-linked glycan chains of glycoproteins. By correlation of these spectra and comparison with spectra of reference glycopeptides and sialyl-lactose isomers it was possible to assign all signals belonging to anomeric, mannose H-2, sialic acid H-3 and N-acetyl protons. The number of the consituting monosaccharide residues of the oligomers can be obtained by integration of the above-mentioned signals. The chemical shifts of the anomeric and mannose H-2 protons give information about the type of glycan structure (mono-, bi-, triantennary) and the presence of terminal sialic acid at each of the antennas. The chemical shifts of sialic acid H-3 protons are typical for sialic acid residues in 2 leads to 3 or 2 leads to 6 linkage to galactose.
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The 360-MHz proton magnetic resonance spectra of 2-acetamido-1-N-(4-L-aspartyl)-2-deoxy-beta-D-glucopyranosylamine (GlcNAcbeta1 leads to Asn) and 2-acetamido-6-O-(alpha-L-fucopyranosyl)-1-N-(4-L-aspartyl)-2-deoxy-beta-D-glucopyranosylamine (Fucalpha1 leads to 6GlcNAcbeta1 leads to Asn) in deuterium oxide were completely interpreted. The chemical shifts and coupling constants were refined by simulation of the spectra. By means of an adapted Karplus equation the pyranose ring conformation of the sugars was calculated. The change of the geminal coupling constant J6a,6b in the N-acetylglucosamine residue of Fucalpha1 leads to 6GlcNAcbeta1 leads to Asn with respect to GlcNAcbeta1 leads to Asn is proposed to be characteristic for the (1 leads to 6) glycosidic linkage.
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3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks. L-serine was then given to the mother, which resulted in an enlarged fetal head circumference to the 76th percentile at 31 weeks. At birth, the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. 3-PGDH deficiency is an inborn metabolic error that can be successfully treated antenatally.