hyperlysinemia

An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

Signs and symptoms

• Ornithinuria
• Hyperlysinuria
• Hypoornithinemia
• Homocitrullinuria
• Decreased CSF arginine concentration
• Hyperactivity
• Argininuria
• Increased CSF lysine concentration
• Mild intellectual disability
• Seizure