Corpus ID: 92598383

The neurochemical consequences of aromatic L-amino acid decarboxylase deficiency

  title={The neurochemical consequences of aromatic L-amino acid decarboxylase deficiency},
  author={George F. G. Allen},
  • G. Allen
  • Published 28 April 2011
  • Chemistry
Aromatic L-amino acid decarboxylase (AADC) catalyses the conversion of 5-hydroxytryptophan (5-HTP) and L-3,4-dihydroxyphenylalanine (L-dopa) to the neurotransmitters serotonin and dopamine respectively. The inherited disorder AADC deficiency leads to a severe deficit of serotonin and dopamine as well as an accumulation of 5-HTP and L-dopa. This thesis investigated the potential role of 5-HTP/L-dopa accumulation in the pathogenesis of AADC deficiency. Treatment of human neuroblastoma cells with… Expand
2 Citations
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Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
A new case of A ADC deficiency in a 2-year-old Dutch girl was published, with mild clinical presentation and unexpected biochemical findings, i.e. a urinary metabolite pattern partly consistent with AADC deficiency, but also with elements that could not easily be explained from the defect. Expand
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A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.
The final step in production of the neurotransmitters dopamine and serotonin is catalyzed by aromatic l-amino acid decarboxylase (AADC). AADC deficiency is a debilitating genetic condition thatExpand
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