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

The syndrome caused by mutations in the HAHDB gene is a multisystem disorder characterized by three phenotypes associated with complete Mitochondrial Trifunctional Protein deficiency: an early-onset cardiomyopathy and early death, an intermediate form with recurrent hypoketotic hypoglycemia or a sensorimotor neuropathy with episodic rhabdomyolysis.

Individuals with homozygous or compound heterozygous mutations usually present as one of those three phenotypes.

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

Benoit Gentil, PhD, McGill University, Montreal, Canada, benoit.gentil@mcgill.ca
Rami Massie, MD, McGill University, Montreal, Canada, rami.massie@mcgill.ca