HK J Paediatr (new series) 2004;9:167-170 Dihydropyrimidine Dehydrogenase Deficiency: A Baby Boy with Ocular Abnormalities, Neonatal Seizure and Global Developmental Delay

Abstract 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. Key words Inborn error; Neonatal seizure; Pyrimidine metabolism Case Report A post-term Pakistani male infant of 2,940 grams was delivered by Caesarean section after an uneventful pregnancy. He is the second child of consanguineous parents who are first cousins. Both his parents and his 4-year-old sister are all along healthy. He was transferred to our neonatal unit soon after delivery because o