(精编)【医学课件大全】苯丙酮尿症 (44p)教学课件.pptVIP

Case report;How might one go about determining whether an infant has a metabolic disease?; Many of the metabolic defects can present clinically like : a. sepsis. b. formula intolerance or gastroesophageal reflux. c. necrotizing enterocolitis. d. neonatal hepatitis with liver failure. ;;苯丙酮尿症;Phenylalanine;PROTEIN IN FOOD;苯丙酮尿症;Phenylketonuria (PKU), one of the best understood genetic disorders and the first to be screened for in developed countries, results from phenylalanine hydroxylase (PAH) deficiency. The enzyme deficiency leads to build-up of phenylalanine that is toxic in hi