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Biomedical subjects

S J Wysocki

Publications and source records attributed to S J Wysocki.

9 recordsLinked to original sources
PubMed1979

Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.

The urine of a child who presented with hyperammonemia was found to contain elevated levels of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid and 3-methylglutaric acid. An increased excretion of these organic acids has been reported previously in a child with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Enzyme studies using cultured fibroblasts from this patient, however, indicated that the 3-hydroxy-3-methylglutaryl-CoA lyase activity was not markedly reduced.

Acyl Coenzyme A↗
PubMed1979

Amniotic fluid squalene and fetal maturity.

Gas chromatographic profiles of neutral lipids in amniotic fluid pellets were analysed for 51 specimens collected from patients in the last two months of pregnancy. The most noticeable change was a large increase in squalene relative to other components in samples at term. By expressing data as a ratio of squalene to cholesterol (S/C), it was possible to accurately predict which amniotic fluid specimens came from patients whose pregnancies were of a gestation of 40 weeks or later. Highest values for S/C and for squalene were obtained for pregnancies which were several weeks overdue.

Amniotic Fluid↗
PubMed1978

3-Methylcrotonylglycine excretion in 3-hydroxy-3-methylglutaric aciduria.

1. 3-Methylcrotonylglycine was identified in urine from an infant with 3-hydroxy-3-methylglutaric aciduria. 2. The concentration of 3-methylcrotonylglycine in urine was approximately one sixth of that of the other metabolite of 3-methylcrotonyl-CoA, 3-hydroxyisovaleric acid. 3. The presence of both metabolites in the infant's urine indicates an inhibition of 3-methylcrotonyl-CoA carboxylase activity in tissues of the infant.

Crotonates↗
PubMed1976

3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.

1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. Several other abnormal constitutents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.

Acidosis↗