Published in
JIMD Reports, p. 39-45
DOI: 10.1007/8904_2011_84
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- [www.ncbi.nlm.nih.gov] | PDF
- [hdl.handle.net]
- [europepmc.org] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained
Journal article published in 2011 by
Tessa Wassenberg 
,
Leo A. H. Monnens,
Ben P. B. H. Geurtz,
Ron A. Wevers,
Marcel M. Verbeek,
Michèl A. A. P. Willemsen
,
Leo A. H. Monnens,
Ben P. B. H. Geurtz,
Ron A. Wevers,
Marcel M. Verbeek,
Michèl A. A. P. Willemsen
Abstract
Aromatic l-amino acid decarboxylase (AADC) decarboxylates 3,4-l-dihydroxylphenylalanine (l-dopa) to dopamine, and 5-hydroxytryptophan to serotonin. In AADC deficiency, dopamine and serotonin deficiency leads to a severe clinical picture with mental retardation, oculogyric crises, hypotonia, dystonia, and autonomic dysregulation. However, despite dopamine deficiency in the central nervous system, urinary dopamine excretion in AADC-deficient patients is normal to high.