LYSOSOMAL STORAGE DISORDERS AND PEROXISOMAL BIOGENESIS DISORDERS

Lysosomal storage disorders (LSDs) and peroxisomal biogenesis disorders (PBDs) are a group of over 50 rare diseases in which a deficiency of proteins or enzymatic activity in the lysosomes or peroxisomes leads to a toxic accumulation of substrate (incompletely digested molecules). Diagnosis can be challenging due to the wide range and overlapping nature of symptoms between LSDs and PBDs and other diseases.

Most LSDs and PBDs are autosomal recessive genetic disorders, except for a few that are X-linked, and collectively have an incidence of between 1:5000 and 1:7000 in the population. It is important to obtain an early and precise diagnosis (typically within the first year of life) in order to take advantage of all potential treatment options.

Courtagen offers one test with comprehensive representation of the genes associated with lysosomal storage disorders, peroxisomal storage disorders, and other genes useful in obtaining a differential diagnosis.


RARECast: New Diagnostic Offers Fast Answers For Group of Rare Diseases

 

 


Click Here to Listen to Dr. Rick Boles talk about lysosmal storage disorders in this informative podcast.