Unusually mild phenotype of AADC deficiency in 2 siblings.

  title={Unusually mild phenotype of AADC deficiency in 2 siblings.},
  author={Stacey Kiat-Hong Tay and K. S. Poh and Keith Hyland and Y. W. Pang and Hooi Tin Ong and Poh Sim Low and Denise Li Meng Goh},
  journal={Molecular genetics and metabolism},
  volume={91 4},
Aromatic L-amino acid decarboxylase deficiency is a rare neurotransmitter defect leading to serotonin, dopamine and norepinephrine deficiency. Affected individuals usually present in infancy with severe developmental delay, oculogyric crises and extrapyramidal movements. We present the clinical, molecular and biochemical features of a pair of siblings who presented with fatigability, hypersomnolence and dystonia and who showed excellent response to treatment. Analysis of CSF biogenic amines… CONTINUE READING


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