tyrosinaemia type 2

(redirected from keratosis palmaris et plantaris, corneal dystrophy syndrome)

tyrosinaemia type 2

An 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.

Molecular pathology
Defects in TAT, which encodes tyrosine aminoaminotransferase, cause tyrosinaemia type 2.
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