Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, 2-10 Princess Margaret Hospital Road, Lai Chi Kok, Kowloon, Hong Kong, China
EKC Yau ( 丘健昌 ) MBBS, MRCP(UK), MRCPCH
CC Shek ( 石志超 ) FHKAM(Paed), FHKCPaed
KY Chan ( 陳國燕 ) FHKAM(Paed), FHKCPaed, FRCP
Department of Pathology, Princess Margaret Hospital, Princess Margaret Hospital Road, Lai Chi Kok, Kowloon, Hong Kong, China
AYW Chan ( 陳恩和 ) FRCP, FHKAM(Pathology), MD
Correspondence to: Dr EKC Yau
Received April 10, 2003
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.
