Phenylketonuria

Question 1

What is Phenylketonuria?

Answer 1

PKU is a genetic disorder where the body cannot break down the amino acid phenylalanine due to a deficiency in the enzyme phenylalanine hydroxylase.
This condition affects approximately 1 in 10,000 newborns.

Question 2

What are the signs and symptoms of Phenylketonuria?

Answer 2

Behavioral Changes: Hyperactivity, seizures, and learning disabilities are common.
Fair Complexion: Individuals with PKU often have lighter skin, hair, and eyes due to lower melanin levels.
Eczema: Those with PKU are prone to developing skin rashes.
Stunted Growth: Developmental delays and shorter stature can occur.
Musty Breath: A distinctive odour in the breath, skin, and urine due to the accumulation of phenylalanine.

Question 3

How can Phenylketonuria be managed?

Answer 3

Low-Protein Diet: Essential to avoid foods high in phenylalanine, including meat, dairy products, nuts, and soy. Special low-protein foods and formulas are often used.
Supplemental Medications: Special formulas and medications can help control phenylalanine levels in the blood.