tyrosinemia type 2 (Richner-Hanhart syndrome)

Etiology: tyrosine aminotransferase deficiency Pathology: oculo-cutaneous syndrome Genetics: - autosomal recessive - associated with defects tyrosine aminotransferase Clinical manifestations: 1) corneal ulcers 2) keratosis of the digits, palms & soles 3) mental retardation Laboratory: 1) elevated blood tyrosine 2) enhanced urine tyrosine & tyrosine metabolites

References

Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999