Phenylketonuria

Overview

Phenylketonuria (PKU) is an inherited metabolic disorder caused by reduced ability to metabolize phenylalanine. If untreated, it can cause intellectual disability, seizures, and behavioral problems; newborn screening allows early detection.

Symptoms

• Intellectual disability
• Yellowish hair
• Musty urine odor
• Eczema

Treatment

After diagnosis, follow a lifelong low-phenylalanine diet with regular monitoring of blood phenylalanine levels; early diagnosis and treatment effectively prevent intellectual impairment.

Dietary advice

Strictly limit high-protein foods containing phenylalanine and use specially formulated low-phenylalanine formula and foods.