Successful dietary control of tyrosinaemia type II caused by a novel variant in TAT

Tyrosinaemia type II is a rare autosomal recessive metabolic disorder caused by mutations in the TAT gene, characterized by painful palmoplantar keratoderma, herpetiform keratitis and neurological disorders. Here, we present a case of a patient harbored an unreported homozygous variant c.863G>T (p.Arg288Met) in the TAT gene, who was diagnosed as tyrosinemia type II. After three months of dietary control, the keratotic plaques significantly regressed.