Phenylketonuria, PKU

Phenylketonuria (PKU) is an autosomal recessive genetic disease, mainly due to the body phenylalanine (phenylalanine; Phe) hydroxylation (hydroxylation) into tyrosine (tyrosine; Tyr) machines impaired metabolic pathway caused congenital metabolic disorders . There are five different enzymes are known to be the cause of such a lack of metabolic machine failure; these include: phenylalanine hydroxylase enzyme (phenylalanine
hydroxylase; PAH), guanine nucleoside triphosphate cyclization hydrolase (Gtp cyclohydrolase I; GTPCHI), propanedione tetrahydro neopterin synthase (6-pyruvoyl tetrahydropterin synthase; PTPS), dihydrotestosterone pteridine reductase (dihydropteridine reductase; DHPR) and neopterin methanol amine dewatering enzyme (pterin-4 -carbinolamine dehydratase; PCD). Different according to their deficiency, have different clinical symptoms and diagnostic methods, the treatment method is not the same.
Because aspartame contains phenylalanine, so containing this sweetener (E950 and E951) drinks (example: Coca-Cola zero) are not suitable for patients with phenylketonuria drinking.
Patients with liver phenylalanine hydroxylase deficiency, making dietary phenylalanine can not be converted to tyrosine, phenylalanine, resulting in accumulation within the brain, the role of transaminase into phenylketonuria, thus affecting the patient brain development, causing mental retardation and epilepsy, and to patients with skin bleaching, hair yellow, smell a rat urine and other symptoms.