C. Newman, B. Wilson, P. Callaghan
Aug 26, 1967
Citations
0
Influential Citations
36
Citations
Quality indicators
Journal
Lancet
Abstract
Abstract A fatal disease in a newborn infant has been shown to be associated with the rare condition of isovalericacidaemia. Clinically there was an early development of a severe metabolic acidosis resistant to treatment. The urine and serum had a strong and characteristic odour resembling that of sweaty feet. There were signs of progressive neurological impairment, and death followed an intrapulmonary haemorrhage. The acidosis arose through the accumulation of a volatile organic acid which was shown by gas-liquid chromatography to be isovaleric acid. The concentration of this acid in the serum at death was about 1500 times the normal value. Isovaleric acid can arise from isovalerylcoenzyme A, an intermediate in the catabolism of leucine. It would seem that in the case described the enzyme responsible for the dehydrogenation of isovalerylcoenzyme A was deficient, and metabolism by an alternative route gave isovaleric acid. This is thought to be the first report of a death of a newborn infant with this inborn error of leucine metabolism.