What does PBD mean in CLINICAL MEDICINE

Peroxisomal Biogenesis Disorders (PBDs) is a group of inherited metabolic diseases caused by mutations in genes responsible for the development and maintenance of peroxisomes. These mutations impair the functioning of cells in the body, leading to clinical manifestations including developmental delay, vision impairment, motor dysfunction, seizures, kidney dysfunction, hearing loss and intellectual disability

PBDs occur in roughly 1 in every 50 000 live births worldwide and approximately 1 in 10 000 - 15 000 births in the U.S.

Patients suffering from PBD can show symptoms such as metabolic acidosis and digestive issues like chronic diarrhea. They may also exhibit neurological issues such as hearing problems or vision problems, cognitive delays or regression, learning difficulties and behavioral changes

Treatment for PBD will depend on which type of mutation has been identified. Treatment may include dietary modification to help manage metabolic acidosis or other gastrointestinal issues, enzyme replacement therapy to address specific enzyme deficiencies associated with certain forms of PBDs, vitamins or supplements to replace those missing due to impaired metabolism and therapeutic intervention to treat any associated physical or neurological impairments

Yes! There are numerous online support networks available specifically geared toward families affected by PBDs allowing patients access to support groups that offer advice and friendship with people going through similar experiences