Tyrosinemia Type II is a rare disorder of tyrosine metabolism.
Synonyms: Richner-Hanhart syndrome (RHS), oculocutaneous tyrosinemia
Gene affected: TAT (tyrosine aminotransferase), in the liver
Gene locus: 16q22
Inheritance: autosomal recessive
(1) mental retardation
(2) hyperkeratosis of the volar aspects of the hands and feet (keratosis palmaris et plantaris, palma-plantar keratoderma)
(3) thickening of the conjunctival epithelium
(4) corneal opacities (dendritic pseudokeratitis)
(6) frequent tearing
Onset is during infancy or early childhood.
(1) increased plasma levels of tyrosine and tyrosine metabolites
(2) increased urine levels of tyrosine and tyrosine metabolites
Management includes a diet low in phenylalanine and tyrosine.
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