iGen 06-01smc

Phenylalanine metabolic pathway

Phenylalanine is a primary amino acid that is abundant in dietary protein. It's main metabolic pathway yields the amino acid Tyrosine, which is involved in the production of Melanin pigments. Defects of enzymes responsbile for interconversion of metabolites in the pathway are the cause of three well-studied, single-gene Inborn Errors of Metabolism: Phenylketonuria (PKU), Albinism (Melanin deficiency), and Alkaptonuria (excess HA).

Figure © 2010 PJ Russell, iGenetics 3rd ed.; all text material © 2014 by Steven M. Carr