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Other Peroxisomal Disorders
Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Peroxisomal biogenesis or assembly disorders (PBD)
            • Single peroxisomal enzyme (transporter) deficiencies (PED)
            • PBD: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), rhizomelic chondrodysplasia punctata (RCDP) type 1, other nonspecific phenotypes
              • Zellweger spectrum disorders (ZSD): Triad of ZS, NALD, IRD (but not RCDP) phenotypes
              • RCDP type 1: Normal β-oxidation of very long chain fatty acids (VLCFA), therefore different profile
            • PED composed of ≥ 16 disorders with gene mutation affecting single protein in peroxisomal function
              • Peroxisomal fatty acid β-oxidation
                • Adrenoleukodystrophy protein (X-ALD); deficiencies of alkyl-DHAP-synthase (RCDP type 3); Acyl-CoA oxidase, D-bifunctional protein (D-BP), sterol carrier protein X (SCPx), and 2-methylacyl CoA racemase (AMACR)
              • Ether phospholipid biosynthesis (especially plasmalogens)
                • DHAP-alkyl transferase (DHAPAT; RCDP type 2)
              • Phytanic acid α-oxidation: Adult Refsum disease (ARD)
              • Glyoxylate detox: Primary hyperoxaluria type 1
              • Hydrogen peroxide metabolism: Acatalasemia
              • Degradation of methy-branched phytanic acid: Phytanic acid accumulation
          • Definitions

            • Peroxisomes: Membrane-bound subcellular organelles involved in catabolic and anabolic pathways, collaborate with other organelles
              • > 50 enzymes are contained within peroxisomes, majority in lipid metabolism

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          Selected References

                                          1. Lamari F et al: An overview of inborn errors of complex lipid biosynthesis and remodelling. J Inherit Metab Dis. 38(1):3-18, 2015
                                          2. Schrader M et al: Peroxisome-mitochondria interplay and disease. J Inherit Metab Dis. ePub, 2015
                                          3. Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
                                          4. Fujiki Y et al: Peroxisome biogenesis in mammalian cells. Front Physiol. 5:307, 2014
                                          5. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                          6. Barry DS et al: Peroxisomes: the neuropathological consequences of peroxisomal dysfunction in the developing brain. Int J Biochem Cell Biol. 45(9):2012-5, 2013
                                          7. Braverman NE et al: Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 17(3):187-96, 2013
                                          8. Nagotu S et al: Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import. Biochim Biophys Acta. 1822(9):1326-36, 2012
                                          9. Waterham HR et al: Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 1822(9):1430-41, 2012
                                          10. Brites P et al: Plasmalogens participate in very-long-chain fatty acid-induced pathology. Brain. 132(Pt 2):482-92, 2009
                                          11. Thoms S et al: Organelle interplay in peroxisomal disorders. Trends Mol Med. 15(7):293-302, 2009
                                          12. Carrozzo R et al: Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Am J Med Genet A. 146A(13):1676-81, 2008
                                          13. Saitoh M et al: Changes in the amounts of myelin lipids and molecular species of plasmalogen PE in the brain of an autopsy case with D-bifunctional protein deficiency. Neurosci Lett. 442(1):4-9, 2008
                                          14. Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
                                          15. Ferdinandusse S et al: Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 59(1):92-104, 2006
                                          16. Funato M et al: Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies. Brain Dev. 28(5):287-92, 2006
                                          17. Wanders RJ et al: Peroxisomal disorders: The single peroxisomal enzyme deficiencies. Biochim Biophys Acta. 1763(12):1707-20, 2006
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Pathology

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Peroxisomal biogenesis or assembly disorders (PBD)
                                                    • Single peroxisomal enzyme (transporter) deficiencies (PED)
                                                    • PBD: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), rhizomelic chondrodysplasia punctata (RCDP) type 1, other nonspecific phenotypes
                                                      • Zellweger spectrum disorders (ZSD): Triad of ZS, NALD, IRD (but not RCDP) phenotypes
                                                      • RCDP type 1: Normal β-oxidation of very long chain fatty acids (VLCFA), therefore different profile
                                                    • PED composed of ≥ 16 disorders with gene mutation affecting single protein in peroxisomal function
                                                      • Peroxisomal fatty acid β-oxidation
                                                        • Adrenoleukodystrophy protein (X-ALD); deficiencies of alkyl-DHAP-synthase (RCDP type 3); Acyl-CoA oxidase, D-bifunctional protein (D-BP), sterol carrier protein X (SCPx), and 2-methylacyl CoA racemase (AMACR)
                                                      • Ether phospholipid biosynthesis (especially plasmalogens)
                                                        • DHAP-alkyl transferase (DHAPAT; RCDP type 2)
                                                      • Phytanic acid α-oxidation: Adult Refsum disease (ARD)
                                                      • Glyoxylate detox: Primary hyperoxaluria type 1
                                                      • Hydrogen peroxide metabolism: Acatalasemia
                                                      • Degradation of methy-branched phytanic acid: Phytanic acid accumulation
                                                  • Definitions

                                                    • Peroxisomes: Membrane-bound subcellular organelles involved in catabolic and anabolic pathways, collaborate with other organelles
                                                      • > 50 enzymes are contained within peroxisomes, majority in lipid metabolism

                                                  IMAGING

                                                  • General Features

                                                    • Radiographic Findings

                                                      • CT Findings

                                                        • MR Findings

                                                          • Ultrasonographic Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    • Gross Pathologic & Surgical Features

                                                                      • Microscopic Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  Selected References

                                                                                  1. Lamari F et al: An overview of inborn errors of complex lipid biosynthesis and remodelling. J Inherit Metab Dis. 38(1):3-18, 2015
                                                                                  2. Schrader M et al: Peroxisome-mitochondria interplay and disease. J Inherit Metab Dis. ePub, 2015
                                                                                  3. Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
                                                                                  4. Fujiki Y et al: Peroxisome biogenesis in mammalian cells. Front Physiol. 5:307, 2014
                                                                                  5. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                                                                  6. Barry DS et al: Peroxisomes: the neuropathological consequences of peroxisomal dysfunction in the developing brain. Int J Biochem Cell Biol. 45(9):2012-5, 2013
                                                                                  7. Braverman NE et al: Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 17(3):187-96, 2013
                                                                                  8. Nagotu S et al: Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import. Biochim Biophys Acta. 1822(9):1326-36, 2012
                                                                                  9. Waterham HR et al: Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 1822(9):1430-41, 2012
                                                                                  10. Brites P et al: Plasmalogens participate in very-long-chain fatty acid-induced pathology. Brain. 132(Pt 2):482-92, 2009
                                                                                  11. Thoms S et al: Organelle interplay in peroxisomal disorders. Trends Mol Med. 15(7):293-302, 2009
                                                                                  12. Carrozzo R et al: Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Am J Med Genet A. 146A(13):1676-81, 2008
                                                                                  13. Saitoh M et al: Changes in the amounts of myelin lipids and molecular species of plasmalogen PE in the brain of an autopsy case with D-bifunctional protein deficiency. Neurosci Lett. 442(1):4-9, 2008
                                                                                  14. Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
                                                                                  15. Ferdinandusse S et al: Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 59(1):92-104, 2006
                                                                                  16. Funato M et al: Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies. Brain Dev. 28(5):287-92, 2006
                                                                                  17. Wanders RJ et al: Peroxisomal disorders: The single peroxisomal enzyme deficiencies. Biochim Biophys Acta. 1763(12):1707-20, 2006