This website provides information on patients with mutations in the UROC1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the UROC1 gene is a multisystem disorder characterized by urocanic aciduria, intellectual disability, ataxia and dysarthria.

Not all individuals with a mutation in the UROC1 gene have these features. Recently, it has been suggested that urocanic aciduria may represent a benign biochemical phenotype and that those individuals with concurrent neurological signs are probably carriers of other diseases. No clinical indications are available about therapies to treat urocanic aciduria.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the UROC1 gene.

Rafael Artuch, MD, PhD, Hospital Sant Joan de Déu, Barcelona, Spain, rartuch@hsjdbcn.org

Roser Urreizti, PhD, Hospital Sant Joan de Deu, CIBERER, Barcelona, Spain,  roser.urreizti@sjd.es