Tyrosine transaminase deficiency
Overview
A rare condition where a deficiency of a liver enzyme (tyrosinase aminotransferase) causes tyrosine levels in the blood to increase and result in eye problems, mental retardation and horny skin lesions.
Symptoms
* Lacrimation * Sensitivity to light * Redness * Painful lesion * Nonpruritic knee lesions * Nonpruritic palm lesions * Nonpruritic sole lesions * Blistered lesions * Lesions of thickened skin * Mental retardation * Self-mutilating behavior * Rapid involuntary eye movements * Glaucoma * Increased blood level of tyrosine * Increased urine level of tyrosine * Corneal dystrophy * Short finger bones * Short toe bones
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Oculocutaneous tyrosinemia. This medical information about signs and symptoms for Oculocutaneous tyrosinemia has been gathered from various sources, may not be fully accurate, and may not be the full list of Oculocutaneous tyrosinemia signs or Oculocutaneous tyrosinemia symptoms. Furthermore, signs and symptoms of Oculocutaneous tyrosinemia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Oculocutaneous tyrosinemia symptoms.
Prognosis
Prognosis of Oculocutaneous tyrosinemia: good but lack of treatment can cause mental retardation