Neuropediatrics 2002; 33(4): 203-208
DOI: 10.1055/s-2002-34497
Original Article

Georg Thieme Verlag Stuttgart · New York

Aromatic L-Amino Acid Decarboxylase Deficiency with Hyperdopaminuria. Clinical and Laboratory Findings in Response to Different Therapies

A. Fiumara1 , C. Bräutigam2 , K. Hyland3 , R. Sharma3 , L. Lagae4 , B. Stoltenborg5 , G. F. Hoffmann2 , J. Jaeken4 , R. A. Wevers5
  • 1 Center for Inborn Errors of Metabolism, Department of Pediatrics, University of Catania, Italy
  • 2 Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany
  • 3 Institute of Metabolic Disease, Baylor University Medical Center, Dallas, USA
  • 4 Department of Pediatrics, University of Leuven, Belgium
  • 5 Institute of Neurology, University Medical Center Nijmegen, The Netherlands
Further Information

Publication History

Received: September 5, 2001

Accepted after Revision: May 18, 2002

Publication Date:
07 October 2002 (online)


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.


M.D. Agata Fiumara

Department of Pediatrics, Università di Catania

Via S. Sofia, 78

95123 Catania