• Corpus ID: 3463447

Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family.

  title={Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family.},
  author={Howard E. Henderson and Rakesh Balla and G de Jong and Christine J. Piek and L. J. Mienie and E. Erasmus},
  journal={South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde},
  volume={71 9},
Glutaric aciduria type II (GA II) was proved in a neonate who presented shortly after birth with respiratory distress, metabolic acidosis, non-ketotic hypoglycaemia and a sweaty-feet-like odour. The diagnosis was based on elevated levels of glutaric and other acids in the urine and on studies on cultured skin fibroblasts where defective metabolism of fatty acids of varying chain length was demonstrated. Antenatal diagnosis was performed on a subsequent pregnancy in this family where an abnormal… 

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