Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination

@article{Treacy1992MapleSU,
  title={Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination},
  author={Eileen Treacy and Carol L. Clow and Terry Reade and David C Chitayat and Orval A. Mamer and Charles R. Scriver},
  journal={Journal of Inherited Metabolic Disease},
  year={1992},
  volume={15},
  pages={121-135}
}
Four patients with classical maple syrup urine disease were treated for up to 5885 days per patient with a relaxed protocol allowing branched-chain amino acid levels in plasma to rise about 5 times the normal mean value. The patients have had satisfactory development and lifestyle. They spent 318 days in hospital during 19 937 aggregate treatment days. Plasma levels of leucine and the corresponding 2-oxo acid were shown to be elevated disproportionately relative to the other branched-chain… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 40 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 37 references

The relationship between the branched chain amino acids and their keto acids in maple syrup urine disease

  • S. E. Snyderman, F. Goldstein, Q. Sanswic, R. M. Norton
  • Pediatr. Res
  • 1984
Highly Influential
3 Excerpts

L-isoleucine and L-allo-isoteucine in patients with Maple Syrup Urine Disease

  • S J.
  • Pediatr. Res
  • 1989

Similar Papers

Loading similar papers…