What does PBD mean in MEDICAL

Peroxisome biogenesis disorder (PBD) is a group of rare genetic conditions caused by defects in the genes responsible for the structure and function of peroxisomes. These organelles are essential for certain metabolic processes such as lipid breakdown.

There are currently two categories of PBDs, which include abnormal peroxisome assembly, known as complementation group 1 (CG1), and abnormal peroxisomal protein import/trafficking, known as complementation group 2 (CG2).

Symptoms can vary greatly depending on the type and severity of the disorder. Common features include growth retardation, facial dysmorphism, hypotonia, chronic hepatic failure or cytopenias, renal tubulopathy and central nervous system dysfunction.

PBDs can be caused by mutations in different genes involved in peroxisome biosynthesis and maintenance. Some mutations cause a loss-of-function in these genes resulting in defective enzyme activity or protein import into the peroxisome matrix.

A diagnosis can be made based on clinical evaluation as well as genetic testing to identify specific mutations in the candidate gene(s). Additionally, biochemical tests may also be performed to measure levels of key metabolites associated with affected pathways.