Successful dietary control of tyrosinaemia type II caused by a novel variant in <i>TAT</i>
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 who harboured an unreported homozygous variant c.863G &gt; T (p.Arg288Met) in the TAT gene, and was diagnosed with tyrosinaemia type II. After 3 months of dietary control, the keratotic plaques had significantly regressed.
Authors
- S Zhu
- Zhiming Chen (ORCID: https://orcid.org/0000-0002-3097-0126)
- Zhongya Song (ORCID: https://orcid.org/0000-0002-5517-023X)
- Yang Yong (ORCID: https://orcid.org/0000-0002-4720-2043)
- Ran Mo (ORCID: https://orcid.org/0000-0003-3212-4609)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Chinese Academy of Medical Sciences Dermatology Hospital (CN)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-09-25
- DOI
- https://doi.org/10.1093/bjd/ljaf376
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00