Diagnosis: DHPR Deficiency
Last Update: 2/6/23
Meet Oliver - a 2-year-old battling Dihydropteridine Reductase Deficiency (DHPR).
Just three days after birth, his parents received a phone call from the lab saying his newborn screening was abnormal. After another test, Oliver tested positive for PKU, a rare inherited disorder causing an amino acid called phenylalanine to build up in the body, which causes brain damage.
After a strict diet, Oliver's parents, Vince and Maria, were told this was a manageable disorder. To manage it, Oliver needed weekly blood draws to ensure his PHE levels were normal. At seven months old, Oliver's PHE levels continued to be lower, which led his Genetic Doctor to run a DNA test. Oliver tested positive for Dihydropteridine Reductase Deficiency (DHPR), which impacts the neurotransmitters vital for healthy brain development.
There is no cure or standardized treatment. The medications prescribed to Oliver attempt to replace the missing neurotransmitters and help his body absorb the medication. Unfortunately, these medications are generally used to treat Parkinson's disease, and there is not a lot of information in regard to the effects of long-term use.
To contribute to kids like Oliver, please click the button below: