This website provides information on patients with mutations in the MMUT gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the MMUT gene is a multisystem disorder characterized by episodes of acute intoxication that may be life-threatening. Even after the patient has begun therapy complications can occur leading to neurodevelopmental retardation and isolated organ failure (kidney, pancreas, …). The mechanism of the pathology is an endogenous intoxication due to the accumulation of toxic metabolites above the methylmalonyl-CoA mutase, the enzyme encoded by the MMUT gene. Not all individuals with a mutation in the MMUT gene have these features.
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 MMUT gene.
Jean-François Benoist, PharmD, PhD, University hospital Robert Debré, Paris, France, firstname.lastname@example.org