Article

Phenotypic Correlations with Circulating Tyrosine and a Novel TAT Mutation：a Case Report and Literature Review of Tyrosinemia Type II

2026-07-31

Abstract excerpt

<title>Abstract</title> <p>Background Tyrosinemia type II (Richner-Hanhart syndrome) results from a deficient activity of tyrosine aminotransferase (TAT), defining an ultrarare autosomal recessive metabolic disorder. While fewer than 200 cases have been reported worldwide, the number of cases described in China is markedly lower. The causative TAT gene resides on chromosome 16q22, encompasses 12 exons, and yield...

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Literature Corpus work: 648c90c7-8f43-5cc6-a126-ef4e04d0d210
DOI: 10.21203/rs.3.rs-9964919/v1

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