Dihydropteridine Reductase Deficiency

Dihydropteridine Reductase Deficiency: Understanding the Symptoms, Causes, Diagnosis, and Treatment Introduction Dihydropteridine reductase deficiency, also known as DHPR deficiency, is a rare genetic disorder that affects the body’s ability to produce neurotransmitters essential for brain function. This condition is classified as a type of tetrahydrobiopterin (BH4) deficiency, which leads to a range of neurological and…