Title: Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies
Authors: Fiumara, A ×
Bräutigam, C
Hyland, K
Sharma, R
Lagae, Lieven
Stoltenborg, B
Hoffmann, G F
Jaeken, Jacques
Wevers, R A #
Issue Date: Aug-2002
Series Title: Neuropediatrics vol:33 issue:4 pages:203-8
Abstract: Aromatic L-amino acid decarboxylase (AADC - E.C. converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Inherited deficiency of this enzyme leads to decreased brain levels of these neurotransmitters. Clinically this results in the development of a progressive neurometabolic disorder characterized by severe hypotonia, dystonic and choreoathetoid movements, oculogyric crises, and hypothermia from infancy. Here we describe the clinical, biochemical and molecular details of two affected brothers, one of whom, despite the lack of AADC, presented with hyperdopaminuria. In addition, we detail his reactions to treatment with dopaminergic agonists, monoamine oxidase inhibitors and pyridoxine.
ISSN: 0174-304X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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