This website provides information on patients with mutations in the TPI1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TPI1 gene is a multisystem disorder characterized by haemolytic anaemia, jaundice, progressive neuromuscular dysfunction, and increased susceptibility to infection with specific pathogenic variants resulting in severe disease and death by age 5-8.
Not all individuals with a mutation in the TPI1 gene have these severe features. The severity depends on the type of the mutation.

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 TPI1 gene.

Ferenc Orosz, PhD, DSc – scientific advisor, Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary, orosz.ferenc@ttk.hu