Putman C W, Rotteveel J J, Wevers R A, van Gennip A H, Bakkeren J A, De Abreu R A
Department of Paediatric Neurology, University Hospital Nijmegen, The Netherlands.
Neuropediatrics. 1997 Apr;28(2):106-10. doi: 10.1055/s-2007-973681.
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.
本文报告了一例出生时即患有先天性异常的儿童病例。其早期发育严重滞后，获得的技能极少。头围百分位下降。磁共振成像显示神经元进行性萎缩以及髓鞘形成继发性延迟。通过核磁共振波谱法定量测定了体液中的二氢嘧啶浓度。肝活检的酶学分析显示二氢嘧啶酶（DHP）（5,6 - 二氢嘧啶酰胺水解酶；EC 3.5.2.2）完全缺乏。因此，该患者是首例经酶学证实的二氢嘧啶酶缺乏症患者。迄今为止，另外三名患有各种神经异常的患者也报告了二氢嘧啶尿症。提示该酶缺乏与我们患者的神经退行性临床病程有关。
