Acute neonatal isovaleric acidaemia presented without acidosis or ketonuria

@article{Pesce1991AcuteNI,
  title={Acute neonatal isovaleric acidaemia presented without acidosis or ketonuria},
  author={Ferdinando Pesce and Roberto Cerone and Ubaldo Caruso and Caro Romano},
  journal={Journal of Inherited Metabolic Disease},
  year={1991},
  volume={14},
  pages={111}
}
Isovaleric acidaemia is an inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency (McKusick 24350); the name derives from the elevated concentration of plasma isovaleric acid (IVA) found in the patients (Sweetman, 1989). Two forms are recognized: (1) acute neonatal and (2) chronic, with recurrent attacks of severe ketoacidosis. To our knowledge some 45 cases with sufficient diagnostic criteria to establish the diagnosis have been reported up to now (Sweetman, 1989). The… CONTINUE READING