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A patient who presented in the newborn period with severe lactic acidosis and hyperammonaemia has been shown to have a specific defect in the pyruvate dehydrogenase complex. The secondary inhibition of ureagenesis in this patient appears to be due to a functional deficiency of carbamyl phosphate synthetase.
OBJECTIVES To determine the proportion of urine amino and organic acids screening tests (UMS) undertaken for patients referred with developmental delay or intellectual disability (DD/ID), and within the group with DD/ID, to determine the diagnostic yield, the proportion of diagnoses with a therapy and the associated recurrence risks. METHODS A… (More)
We assessed lysosomal exohydrolase activities in homogenates of cultured skin fibroblasts and peripheral blood leucocytes of approximately 550 patients referred from throughout Australasia and suspected of having a mucopolysaccharidosis. Of these, 96 patients from 80 families were diagnosed as being homozygous deficient for a particular lysosomal enzyme… (More)
An investigation into the maximum safe decompression step from oxygen nitrogen saturation to 1 bar was carried out with and without the presence of 0.02 bar carbon dioxide. The series, Islander 1, involved 13 teams of 5, fully informed, male volunteers carrying out simulated dives. One group of 6 teams carried out dives in an atmosphere of 0.4 bar oxygen,… (More)
We report a family who experienced an unexplained neonatal death. Twelve years after the death, we retrospectively diagnosed multiple acyl-coenzyme A dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profile in the child's archived newborn screening card, using tandem mass spectrometry.
We report a patient with late-onset nonketotic hyperglycinaemia managed with a sequential approach to drug therapy in placebo-controlled therapeutic trials. Partial response to low-protein diet and sodium benzoate and dramatic response to imipramine are demonstrated, with parental scores on the Developmental Behavioural Checklist falling from the 86th… (More)
Male rats responded under a fixed-ratio (FR) 50 or a fixed-interval (FI) 120 sec schedule of milk delivery. Separate groups were acutely exposed to 0.5, 1.5, 4.5 or 0 (FI only) Gray (Gy) of cobalt-60 gamma radiation 3 times at 43-day intervals. All rats received an acute dose of 6.5 Gy 64 days after the last of these exposures. One-half and 1.5 Gy did not… (More)