Phenylketonuria (PKU). PKU at a Glance b Name of disorder: Phenylketonuria (PKU) b OMIM number: 261600 b inheritance pattern: autosomal recessive.
Phenylketonuria (PKU) TAM NGUYEN CHEM 4700. Introduction PKU is a common inborn metabolic disorder caused by a deficiency of the liver enzyme phenylalanine.
PHENYLKETONURIA IN THE NAME OF GOD. What is phenylketonuria? Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels.
Inborn errors of metabolism By : - Dr. Sanjeev. Phenylketonuria (PKU) It is an autosomal recessive (two copies of an abnormal gene ) genetic disorder.
Amino acid disorders. Phenylketonuria (PKU) Enzyme defect: phenylalanine hydroxylase (12th chromosome): more than 400 mutations Incidence: Average 1:10,000.
Phenylketonuria Samuel Chan, Jekaterina Davydova PHM142 Fall 2015 Instructor: Dr. Jeffrey Henderson.
