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Neuropediatrics 1997; 28(2): 106-110
DOI: 10.1055/s-2007-973681
Original articles

© Hippokrates Verlag GmbH Stuttgart

Dihydropyrimidinase Deficiency, a Progressive Neurological Disorder?

C. W. M. M. Putman1 , J. J. Rotteveel1 , R. A. Wevers2 , A. H. van Gennip3 , J. A. J. M. Bakkeren2 , R. A. De Abreu2
  • 1Departments of Paediatric Neurology, University Hospital Nijmegen
  • 2Departments of Clinical Chemistry of the Institutes of Neurology and Paediatrics, University Hospital Nijmegen
  • 3Department of Clinical Chemistry, Academic Medical Centre, Amsterdam, The Netherlands
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Publication History

Publication Date:
13 March 2007 (online)

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Abstract

A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded and acquired skills minimally. The head circumference centile decreased. Magnetic resonance imaging showed progressive neuronal atrophy and secondary delay in myelination. Dihydropyrimidine concentrations in body fluids were quantitated by NMR spectroscopy. Enzymatic assay in the liver biopsy revealed total deficiency of dihydropyrimidinase (DHP) (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2). As such, the patient is the first with enzymatically proven DHP deficiency. Thus far dihydropyrimidinuria has been reported in three other patients with a variety of neurological abnormalities. A relation of the enzyme deficiency with the neurodegenerative clinical course in our patient is suggested.

Key words

Dihydropyrimidinuria - Dihydropyrimidinase deficiency - 5,6-dihydropyrimidine amidohydrolase - Neurodegenerative disease - NMR spectroscopy