Table of Contents

HK J Paediatr (New Series)
Vol 9. No. 2, 2004

HK J Paediatr (New Series) 2004;9:167-170

Case Report

Dihydropyrimidine Dehydrogenase Deficiency: A Baby Boy with Ocular Abnormalities, Neonatal Seizure and Global Developmental Delay

EKC Yau, CC Shek, KY Chan, AYW Chan


Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of pyrimidine catabolism. This enzyme deficiency has a wide phenotypic variability but neurological abnormalities like convulsion, motor developmental delay and mental retardation are common. DPD deficiency is also associated with increased risk of toxicity in patients receiving anti-neoplastic agent, 5-fluorouracil (5-FU). A family inherited with this enzyme defect is firstly reported in our locality and it illustrates the variability of clinical presentations in family members with the same genotypes and the importance of urine screening by gas chromatography-mass spectrometry (GC-MS) in children with unexplained cerebral dysfunction.

Keyword : Inborn error; Neonatal seizure; Pyrimidine metabolism

Abstract in Chinese


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