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Neuropediatrics 1989; 20(1): 3-11
DOI: 10.1055/s-2008-1071257
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Kinetic Study of Catecholamine Metabolism in Hereditary Progressive Dystonia

A. P. J. M. de Jong1 , E. A. Haan2 , J. I. Manson3 , G. A. Wise4 , R. A. Ouvrier5 , S. K. Wadman6
  • 1Department of Pediatrics, Free University Hospital, 1007 MB Amsterdam, The Netherlands
  • 2Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Vic 3052, Australia
  • 3Department of Neurology, Adelaide Childrens's Hospital, North Adelaide, S. A. 5006, Australia
  • 4Department of Neurology, The Prince of Wales Children's Hospital, Randwick, N. S. W. 2031, Australia
  • 5Department of Neurology, Royal Alexandra Hospital for Children, Camperdown, N. S. W. 2050, Australia
  • 6Laboratory for Inherited Metabolic Disease, University Hospital "Het Wilhelmina Kinderziekenhuis", 3512 LK Utrecht, The Netherlands
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Kinetics of catecholamine biosynthesis and metabolism have been examined in patients with hereditary progressive dystonia with marked diurnal fluctuation of symptoms (HPD, Segawa's disease).

Three patients and a healthy control received an oral load of deuterated tyrosine, and monodeuterium labelled catecholamines and their metabolites in urine and plasma were examined by gas chromatographymass spectrometry.

Patients excreted normal amounts of the primary metabolites of dopamine (dihydroxyphenylacetic acid, homovanillic acid) in urine, suggesting normal rates of dopamine production. However, the biological half-life of dopamine in the patients was reduced to about half that of controls.

Noradrenaline biosynthesis and metabolism were normal.

Taken together, these results are interpreted to show a reduced biological half-life of dopamine in the brains of these patients, possibly caused by a defect in dopamine storage. Impaired dopamine storage may be the basis of the diurnal fluctuation in symptoms.

Key words

Dystonia - Catecholamine