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Case Reports
. 1979 Jun 28;131(3):205-11.
doi: 10.1007/BF00538944.

Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development

M Duran, F J van Sprang, J G Drewes, L Bruinvis, D Ketting, S K Wadman
Case Reports

Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development

M Duran et al. Eur J Pediatr. .

Abstract

Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.

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