An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges

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.

Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Hamoud H Al KhallafMiao HeAngela WittenauerElizabeth E WoolleyMariagrazia CuntoMuhammad Ali Pervaiz Source Type: research