Abstract
A patient with intermittent episodes of cerebellar ataxia has been described (Pediat. 43:1025, 1969). The child excreted large amounts of urinary pyruvic acid during an episode which was studied in detail. Fibrobalst tissue culture cells were assayed for pyruvic decarboxylase and found to contain a low concentration of this enzyme. further examination of urine collected during the ataxic episode revealed that alanine was excreted in amounts proportional to that of pyruvic acid and that both metabolites were in concentrations inversely proportional to those of glutamic acid and aspartic acid. A child with late diagnosed, and hitherto untreated, phenylketonuria (PKU) was examined and found to have a high serum phenylalaline concentration and ketoaciduria. She was treated with a phenylalanine deprivation diet and urines collected in day and night 12-hour contiguous sequence. As the serum phenylalanine concentration fell there was a concomitant decrease in greatly elevated concentrations of urinary pyruvic acid into the normal range tother with a steady increase in concentrations of urinary glytamic acid. These observations suggested that inhibition of pyruvic decarboxylase could be an important mechanism in PKU as well as other ketoacidurias and that such a mechanism might involve the metabolism of glutamic acid. Experiments were carried out and showed that authentic α iso caproic acid and phenylpyruvic acid produce a marked decrease in the activity of pyruvic decarboxylase in vitro.
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Lonsdale, D., Price, J., Shamberger, R. et al. Pyruvic decarboxylase inhibition in ketoaciduria. Pediatr Res 5, 396 (1971). https://doi.org/10.1203/00006450-197108000-00104
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DOI: https://doi.org/10.1203/00006450-197108000-00104