tyrosinemia type III

A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

Signs and symptoms

• Hypertyrosinemia
• 4-Hydroxyphenylpyruvic aciduria
• 4-hydroxyphenylacetic aciduria
• Global developmental delay
• Mild intellectual disability
• Severe intellectual disability
• Seizure
• Elevated circulating hepatic transaminase concentration