• defective
  • Lysosomal storage disorders are a diverse group of inherited diseases where macromolecules accumulate due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function. (testcatalog.org)
  • long chain
  • Other reactions, such as β-oxidation of long-chain fatty acids, occur in other compartments within the cell, but the peroxisomal pathway is highly inducible and allows for fine-tuning of the. (oup.com)
  • CLASSIFICATION
  • Other assays that help in the detection and classification of these disorders include measurement of plasma levels of phytanic acid, pristanic acid, pipecolic acid, plasmalogens, and bile acid intermediates. (oup.com)