tyrosinaemia type 2

(redirected from oculocutaneous tyrosinemia)

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.
References in periodicals archive ?
Deficiency of another enzyme, tyrosine aminotransferase, causes oculocutaneous tyrosinemia (type II) (85).

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