tyrosinaemia type 2
tyrosinaemia type 2An autosomal recessive metabolic defect (OMIM:276600) characterised by a marked elevation of tyrosine in the blood and urine, oculocutaneous manifestations (e.g., palmoplantar keratosis, painful corneal ulcers), and mental retardation.
Defects in TAT, which encodes tyrosine aminoaminotransferase, cause tyrosinaemia type 2.
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