Hereditární tyrosinémie typ II, první případ v České republice
| Authors | |
|---|---|
| Year of publication | 2021 |
| Type | Article in Periodical |
| Magazine / Source | Pediatria |
| MU Faculty or unit | |
| Citation | |
| Web | http://www.amedi.sk |
| Keywords | tyrosinemia; TAT gene; eye; skin; intellectual disability |
| Description | Hereditary tyrosinemia type II (MIM276 000), known as Richter-Hanrvart syndrome, is a rare autosomal recessive disorder of tyrosine metabolism caused by mutations in the TAT gene coding hepatic cytosolic tyrosine transferase. It leads to tyrosine and its metabolites accumulation in the human body, damage to eyes or skin, which might be accompanied by neurological impairment, mostly lowering intellect. Until now, approximately 150 patients were described in the literature. We present a case of the first Czech proband with molecular-genetically confirmed diagnosis. |