Isovaleric acidemia with promyelocytic myeloproliferative syndrome.

@article{GilbertBarness1999IsovalericAW,
  title={Isovaleric acidemia with promyelocytic myeloproliferative syndrome.},
  author={Enid F Gilbert-Barness and Louis A Barness},
  journal={Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society},
  year={1999},
  volume={2 3},
  pages={286-91}
}
Isovaleric acidemia, an autosomal recessive disorder, is due to isovaleryl-coenzyme A dehydrogenase deficiency and is one of the branched-chain aminoacidopathies. Isovaleric acidemia may present in the neonatal period with an acute episode of severe metabolic acidosis, ketosis, and vomiting and may lead to coma and death in the first 2 months of life. This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia… CONTINUE READING

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