The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).

ABSTRACT:

Background

Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl-pyruvate dioxygenas (HPPD) genes, respectively. There are still unclarified aspects in their clinical presentations, mutational spectrum, and genotype-phenotype correlation.

Main body

In this study, we evaluated the spectrum of TAT and HHPD gene mutations in patients with tyrosinemia type II and III. Moreover, biochemical and clinical findings are evaluated to establish a genotype-phenotype relationship in the above-mentioned patients. Thirty-three TAT variants have been reported in 42 families, consisting of 21 missense variant

SUBMITTER: Beyzaei Z 

PROVIDER: S-EPMC9724276 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature