Peroxisomal disorders are rare, genetic, terminal conditions that affect all major organ systems of the body.
A peroxisomal disorder on the Zellweger spectrum means that the peroxisomes in your cells aren’t working properly, are absent, or are severely decreased.
Single enzyme protein deficiencies including D-Bifunctional Protein Deficiency (DBPD) and Acyl-CoA Oxidase Deficiency (ACOX) are also peroxisomal disorders.
Peroxisomes are necessary for cell function, normal brain development, and the formation of myelin.
As the understanding of this disorder has grown, there has been a movement away from the original disease categories towards a continuum of disease severity for PBD-ZSD, ranging from most severe (Zellweger syndrome), intermediate (neonatal adrenoleukodystrophy), and mild (infantile Refsum disease and Heimler syndrome). Although less common now, you may occasionally hear PBD-ZSD referred to by any of these former names.
Peroxisomal disorders are inherited in an autosomal recessive manner, meaning that both the mother and father of a patient have to carry the recessive gene for the patient to have the disorder. These mutations cause one of two major types of peroxisomal disorders:
The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by parents of children impacted by Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). GFPD is a 501(c)(3) nonprofit public charity committed to funding research to develop a greater understanding of PBD-ZSD and related peroxisomal disorders.
Additionally, the GFPD organizes Family and Scientific Conferences, connects families through online support groups, and also provides an equipment exchange program. Our Scientific Advisory Board includes the foremost researchers and physicians in the field of peroxisomal disorders. In their roles as advisers, members collaborate with each other and with our Board of Directors and staff in order to better guide and support our families and the research initiatives of the GFPD.