An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 483-486
Artigo
em Inglês
| IMSEAR
| ID: sea-156620
ABSTRACT
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder that shows large phenotypical variability, ranging from no symptoms to intellectual disability, motor retardation, and convulsions. In addition, homozygous and heterozygous mutation carriers can develop severe 5‑fluorouracil (5‑FU) toxicity. The lack of genotype‑phenotype correlation and the possibility of other factors playing a role in the manifestation of the neurological abnormalities, make the management and education of asymptomatic DPD individuals more challenging. We describe a 3‑month‑old baby who was incidentally found by urine organic acid testing (done as part of positive newborn screen) to have very high level of thymine and uracil, consistent with DPD deficiency. Since the prevalence of asymptomatic DPD deficiency in the general population is fairly significant (1 in 10,000), we emphasize in this case study the importance of developing a guideline in genetic counseling and patient education for this condition as well as other incidental laboratory findings.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Masculino
/
Recém-Nascido
/
Saúde Pública
/
Triagem Neonatal
/
População Branca
/
Deficiência da Di-Hidropirimidina Desidrogenase
/
Fluoruracila
/
Aconselhamento Genético
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Artigo
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