Abstract
A new fetal metabolic disorder is described, mainly characterised by severe acidosis and hypoglycaemia, a' sweaty-feet' like odour, and massive glutaric aciduria and acidaemia. In addition, urinary excretion of isobutyric and isovaleric acid was increased, as well as that of some dicarboxylic acids. Serum levels of various long-chain and short-chain fatty acids and dicarboxylic acids and plasma levels of valine and lysine were markedly elevated. The degradation of 14C-labelled glutaric acid, the branched-chain amino acids, and two corresponding alphaketoacids in fibroblasts was decreased, while that of pyruvic acid was normal. It is speculated that this metabolic pattern is due to a complex disturbance of different acyl-CoA dehydrogenases, with subsequent inhibition of long-chain fatty acid oxidation and gluconeogenesis.
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