Article
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Orphanet journal of rare diseases - 5 Dec 2022
Beyzaei Zahra, Nabavizadeh Sara, Karimzadeh Sara, Geramizadeh Bita
Abstract excerpt
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...
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