Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.

Abstract

Dihydropyrimidinase deficiency is an autosomal recessive inborn error of metabolism characterised by the presence of dihydropyrimidinuria. Its clinical presentation is variable and has also been reported in asymptomatic subjects. We report the first case of dihydropyrimidinase deficiency in Hong Kong, which is also the first reported in a Chinese subject. The patient was a 32-month-old boy who presented with language development delay. Biochemical analysis confirmed markedly increased urinary excretion of dihydrouracil and dihydrothymine, whilst DNA testing confirmed that the patient was compound heterozygous for two missense mutations, one known (p.R302Q) and the other was novel (p.N16K).

• Authors: C W Yeung, M M Yau, C K Ma, T S Siu, Sidney Tam, C W Lam
• Journal: Hong Kong medical journal = Xianggang yi xue za zhi (Hong Kong Med J) Vol. 19 Issue 3 Pg. 272-5 (Jun 2013) ISSN: 1024-2708 [Print] China
• PMID: 23732435 (Publication Type: Case Reports, Journal Article)

Chemical References

• dihydrouracil
• Uracil

Topics

• Child, Preschool
• China
• Dihydropyrimidine Dehydrogenase Deficiency (diagnosis, etiology)
• Hong Kong
• Humans
• Male
• Metabolism, Inborn Errors (complications, diagnosis, genetics)
• Mutation, Missense
• Uracil (analogs & derivatives, urine)