Urinalysis and Body Fluids 6th Edition by Majorie DiLorenzo, Susan Strasinger

Exercise 41

Name the metabolic defect in phenylketonuria, and describe the clinical manifestations it produces.

Step 1 of 2

Metabolic defect in phenylketonuria:

Phenylketonuria is known to be a metabolic disorder with the failure of inheriting the gene, which is inherited as autosomal recessive to form phenylalanine hydroxylase enzyme.

• This enzyme deficiency causes increased phenylalanine in the body