Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
Nucleosides Nucleotides Nucleic Acids
; 29(4-6): 509-14, 2010 Jun.
Article
em En
| MEDLINE
| ID: mdl-20544545
ABSTRACT
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Di-Hidrouracila Desidrogenase (NADP)
/
Deficiência da Di-Hidropirimidina Desidrogenase
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article