Aromatic l-amino acid decarboxylase deficiency

@article{Pons2004AromaticLA,
  title={Aromatic l-amino acid decarboxylase deficiency},
  author={R. Pons and B. Ford and C. Chiriboga and P. Clayton and V. Hinton and K. Hyland and R. Sharma and D. D. de Vivo},
  journal={Neurology},
  year={2004},
  volume={62},
  pages={1058 - 1065}
}
Background: Deficiency of aromatic l-amino acid decarboxylase (AADC) is associated with severe developmental delay, oculogyric crises (OGC), and autonomic dysfunction. Treatment with dopamine agonists and MAO inhibitors is beneficial, yet long-term prognosis is unclear. Objective: To delineate the clinical and molecular spectrum of AADC deficiency, its management, and long-term follow-up. Results: The authors present six patients with AADC deficiency and review seven cases from the literature… Expand
60 Citations

Paper Mentions

Interventional Clinical Trial
This clinical trial expansion is to offer patients, who are not enrolled into the Phase I/II trial, a chance of treatment, to extend the experience in this gene therapy, and to increase… Expand
ConditionsAromatic Amino Acid Decarboxylase Deficiency
InterventionDrug
Aromatic L-amino acid decarboxylase deficiency in Taiwan.
Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiency
Unusually mild phenotype of AADC deficiency in 2 siblings.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 18 REFERENCES
Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
Effects of brain monoamine depletions on thermoregulation in rabbits.
  • M. T. Lin
  • Biology, Medicine
  • The American journal of physiology
  • 1980
Hereditary progressive dystonia with marked diurnal fluctuation
...
1
2
...