Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.
Hong Kong Med J
; 19(3): 272-5, 2013 Jun.
Article
em En
| MEDLINE
| ID: mdl-23732435
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).
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência da Di-Hidropirimidina Desidrogenase
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Child, preschool
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article