Phenylketonuria

Question 1

Phenylketonuria Overview

Answer 1

• Rare, genetic, inherited blood disorder that causes amino acid called phenylalanine to build up
• This can become dangerous when person with PKU eats foods that contain protein or artificial sweetener
• Patient may be placed on restricted diet or given med to have a less restricted diet

Question 2

Phenylketonuria Symptoms

Answer 2

• Musty odor in breath, skin, or urine caused by too much phenylalanine
• Nervous system (neurological) problems that may include seizures
• Skin rashes, such as eczema
• Lighter skin, hair, or eye color (because phenylalanine cannot transform into melanin)
• Small head size
• Hyperactivity
• Intellectual disabilities
• Delayed development
• Behavior, emotional, and social problems
• Mental health disorders