BOLILE PEROXIZOMALE LA COPIL.

Peroxisomes are indispensable for the synthesis of bile acids, cholesterol and lipids, including plasmalogens and other phospholipids that are present in highest concentrations in the brain, heart and muscle. Impairments of these biosynthetic pathways result in progressive multisystem disease. Peroxisomes are also critical for the oxidation of very-long-chain fatty acids and related substances, such as phytanic acid. In addition, peroxisomes accommodate many oxygen-dependent reactions and peroxisomal catalase protects against H2O2. Peroxisomal disorders can be subclassified as follows: A. Disorders of peroxisom biogenesis and peroxisomal  -oxidation (elevations of very-long-chain faty acids) B. Single peroxisomal disorders with variant phenotypes. C. Defects of plasmalogen synthesis However, this widely used classification is not optimal for a clinical and diagnostic approach to peroxisomal disorders. Symptoms and disease courses in patients with generalized versus specific peroxisomal disorders are often indistinguishable and they may vary tremendously within the same group. Further on the authors present a modified grouping of peroxisomal disorders on the basis of the simple, comprehensive diagnostic approach outlined below. Clinical presentations, routine laboratory investigations and specialized investigations of peroxisomal disorders are discussed in the end. [ABSTRACT FROM AUTHOR]