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Biomedical subjects

O Borud

Publications and source records attributed to O Borud.

At least 37 records · Page 2Linked to original sources
PubMed1978

Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.

Urinary excretion of aspartylglycosamines was investigated in eight patients by semiquantitative thin-layer chromatography, and bound glycosamines by a quantitative photometric method (Elson-Morgan reaction). Each patient showed a fairly constant level, relative to the creatinine, of aspartylglycosamines in urine. The least retarded patient, aged 31, excreted about 350 mg/g creatinine, one-third of that found in two severely retarded young patients, aged 4 and 7 years (1400 and 940 mg/g creatinine, respectively). Three days on a low-protein diet did not change the aspartylglycosamine excretion in the patient showing the highest excretion rate.

Acetylglucosamine↗
PubMed1977

Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency.

Detailed studies, using gas chromatography and mass spectrometric methods, of the urinary organic acids excreted by a patient with proven pyruvate decarboxylase deficiency are reported. In addition to the greatly-increased levels of lactate and pyruvate, marked elevation in the levels of 2-oxoglutaric, malic, and isocitric acids were observed, with associated increases 2-hydroxyglutaric, fumaric, succinic, and glyceric acids, and reduced citric acid excretion. The levels of excretion during clinically static and acute periods are compared to those in a normal neonate and normal infants. The metabolites observed indicate a probable defect in the oxidation of pyruvate by pyruvate dehydrogenase and suggest the presence of secondary defects in the tricarboxylic acid cycle. Studies of this type may enable the relatively rapid identification of the probable underlying enzyme deficiency in cases of congenital lactic acidosis, prior to confirmatory enzyme studies.

Acidosis↗
PubMed1977

Hereditary deafness in the cat. Free amino acid and sugar content in the perilymph.

The free amino acid and sugar content of cat perilymph was studied from 11 normal and 17 deaf ears, and compared with simultaneous estimations from cerebrospinal fluid and serum. Each fluid has a distinctive amino acid composition, whilst glucose was the only saccharide demonstrable. The functional status of the cochlea did not influence the biochemical parameters studied.

Amino Acids↗
PubMed1977

Metabolic studies on normal and pyruvate dehydrogenase deficient cultured human fibroblasts.

Secondary metabolic derangements may occur in cultured fibroblasts with a defined enzyme deficiency. The metabolism of cells deficient of pyruvate dehydrogenase (5% of normal) has been studied using radioactive labelled substrates. Compared to normal control cells the activity of glycolysis was 149% (P less than 0.001), pentose phosphate shunt 144% (P less than 0.01), citric acid cycle 80% (P less than 0.002), and oxidation of acetate was 30% (P less than 0.01). The oxidation of palmitate and octanoate were not significantly different from that of control cells. Metabolic studies on fibroblasts may serve as a useful screening procedure for the detection of enzyme defects, but the results should be cautiously interpreted with respect to the localization of the primary defect.

Acidosis↗
PubMed1976

Dopamine-beta-hydroxylase activity in serum following acute myocardial infarction: an evaluation of this parameter for routine use as an index of sympathetic activity.

Dopamine-beta-hydroxylase activity was measured in sera from 114 normal males and from 11 patients on the 1st, 2nd, 3rd, 5th and 10th day following acute myocardial infarction. A significant elevation of dopamine-beta-hydroxylase levels (P less than 0.001) was found during the first two days after infarction when compared with the 10th-day values. Only a few activities were above the reference range. Temporary elevations of glucose and glycerol levels were also found. Assay of serum dopamine-beta-hydroxylase may be a useful parameter of sympathetic activity in longitudinal studies in which each individual is used as his own reference.

Adult↗
PubMed1976

Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.

An infant suffering from metabolic acidosis attributable to hyperlactatemai (6.1 mmol/liter) accompanied by hyperalaninemia (1 mmol/liter) and hyperserinemia (0.6 mmol/liter) is described. The urinary excretion of lactate and pyruvate was greatly elevated; the lactate to pyruvate ratio was normal. The urine showed low levels of citrate, isocitrate, and cis-aconitate, and low or normal levels of alpha-oxoglutarate, succinate, malate, and methylmalonate. Aspartate was slightly elevated in serum and urine, indicating a corresponding increase if its alpha-ketoacid oxaloacetatae. These patterns of organic acids and amino acids suggested an in vivo defect in the oxidation of pyruvate. Fibroblasts cultured from skin biopsy from the patient metabolized radioactive pyruvate (final concentration 0.04-2 mmol/liter) to CO2 at rates from 5 to 17% of that of fibroblasts from normal control subjects. Enzyme studies with fibroblast sonicates revealed a severe deficiency of the pyruvate dehydrogenase complex (about 8% of normal), and this error was localized to the first unit of the complex, i.e., the pyruvate dehydrogenase (about 4% of normal). Fibroblasts from both parents metabolized pyruvate to CO2 at a slightly reduced rate, suggesting parental heterozygosity.

Acidosis↗