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

The syndrome caused by mutations in the IVD gene is a multisystem disorder characterized by acute intermittent attacks in infancy or later in childhood. The acute attacks are characterized by vomiting, refusal to eat, listlessness, abnormal lab values, and a sweaty foot odor. Chronic symptoms include failure to thrive and developmental delay. However, not all individuals with a mutation in the IVD gene have symptoms.

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 IVD gene.

Jerry Vockley, MD, PhD, University of Pittsburgh School of Medicine, Pittsburgh, USA, gerard.vockley@chp.edu