Review Q&A on Phenylketonuria (PKU

Dr Kumar Ponnusamy
Department of Biochemistry & Genetics
School of Medicine (SOM)

A teacher is one who makes himself progressively unnecessary~Thomas

Carruthers

7th Nov 2016

[39.3]. As a part of standard neonatal screen, an infant is diagnosed

with loss of function genetic defect in the enzyme PAH. Defects in this
enzyme can result in a condition known as PKU, which results from the
toxic effects of PA derived phenylketones. Fortunately, this condition can
be managed by regulating the amount of PA provided in the diet. Which
of the following non-essential amino acids will need to be supplemented
in the diet of the infant?.
Essential
Phenyl acetic
A. Alanine.
B. Aspartate.
C. Glycine.
D. Serine.
E. Tyrosine.

acid
Phenyl lactic
acid
Phenyl pyruvic
acid

Amino
Acids (EAAs)

Ans = E.
MeTTVILPhLY

Source: Lange-Case Files Biochemistry, P338.

Phenylalanineis a primary amino acid that is abundant in dietary protein.

It's main metabolic pathway yields the amino acidTyrosine, which is
involved in the production of Melaninpigments. Defects of enzymes
responsbile for interconversion of metabolites in the pathway are the cause
of three well-studied, single-geneInborn Errors of
Metabolism:Phenylketonuria(PKU),Albinism(Melanin deficiency),

122.