tyrosinemia type II

A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.

Signs and symptoms

• Hypertyrosinemia
• 4-Hydroxyphenylpyruvic aciduria
• Elevated urine N-acetyltyrosine level
• Growth delay
• Intellectual disability
• Abnormality of the skin
• Herpetiform corneal ulceration

Also known as: Oculocutaneous tyrosinemia; Richner-Hanhart syndrome