Corpus ID: 92598383

The neurochemical consequences of aromatic L-amino acid decarboxylase deficiency

@inproceedings{Allen2011TheNC,
  title={The neurochemical consequences of aromatic L-amino acid decarboxylase deficiency},
  author={George F. G. Allen},
  year={2011}
}
  • 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
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
TLDR
It is shown that patient-derived disease modelling provides further insight into the neurodevelopmental sequelae of AADC deficiency, as well as a robust platform to investigate and develop personalised therapeutic approaches. Expand
A functional substitution in the L‐aromatic amino acid decarboxylase enzyme worsens somatic symptoms via a serotonergic pathway
TLDR
Heightened somatic symptoms are reported by a wide range of patients with chronic pain and have been associated with emotional distress and physical dysfunction and molecular mechanisms leading to their manifestation are not understood. Expand

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TLDR
Lack of AADC leads to a combined deficiency of the neurotransmitters DA, norepinephrine (NE), epinephrine (E) and serotonin, together with decreased CSF concentrations of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA) and 3-methoxy-4-hydroxyphenylethyleneglycol (MHPG). Expand
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TLDR
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TLDR
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TLDR
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TLDR
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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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TLDR
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TLDR
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