Peroxisomal Diseases

References

• Vamecq J, Draye J P. Pathophysiology of peroxisomal β-oxidation. Essays Biochem 1989; 24: 115–225
   PubMedGoogle Scholar
• Hiltunen J K. Peroxisomes and β-oxidation of long-chain unsaturated carboxylic acids. Scand J Clin Lab Invest 1991; 51(suppl. 204)33–46
   Google Scholar
• Palosaari P. Metabolism of unsaturated fatty acids in the mammalian cell, Δ3, Δ2-Enoyl-CoA isomerase and 3-hydroxyacyl-CoA epimerase as auxiliary enzymes of β-oxidation. Thesis. Acta Universitatis Ouluensis. Ser D Medica 233, 1991
   Google Scholar
• Goldfischer S, Moore C L., Johnson A B., et al. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 1973; 182: 62–4
   PubMed Web of Science ®Google Scholar
• Aikawa J, Chen W W., Kelley R I., Tada K, Moser H W., Chen G L. Low-density particles (w-particles) containing catalase in Zellweger syndrome and normal fibroblasts. Proc Natl Acad Sci USA 1991; 88: 10084–8
   Google Scholar
• Lazarow P B., Moser H W. Disorders of peroxisome biogenesis. The metabolic basis of inherited disease. 6th ed., C R. Scriver, A L. Beaudet, W S. Sly, D Valle. McGraw-Hill, New York 1989; 1479–509
   Google Scholar
• Heikoop J C., van Roermund C WT, Just W W., et al. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. J Clin Invest 1990; 86: 126–30
   PubMed Web of Science ®Google Scholar
• Poll-The B T., Roels F, Ogier H, et al. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 1988; 42: 422–34
   PubMed Web of Science ®Google Scholar
• Christensen E, Van Eldere J, Brandt N J., Schutgens R BH, Wanders R JA, Eyssen H J. A new peroxisomal disorder: di-and trihydroxy-cholestanaemia due to a presumed trihydroxy-cholestanoyl-CoA oxidase deficiency. J Inherit Metab Dis 1988; 13: 363–6
   Google Scholar
• Watkins P A., Chen W W., Harris C J., et al. Peroxisomal bifunctional enzyme deficiency. J Clin Invest 1989; 83: 771–7
   PubMed Web of Science ®Google Scholar
• Schram A W., Goldfischer S, van Roermund C WT, et al. Human peroxisomal 3-oxoacyi-coenzyme A thiolase deficiency. Proc Natl Acad Sci USA 1987; 84: 2494–6
   Google Scholar
• Hashmi M, Stanley W, Singh I. Lignoceroyl-CoASH ligase: enzyme defect in fatty acid β-oxidation system in X-linked childhood adrenoleukodystrophy. FEBS Lett 1986; 196: 247–50
   Google Scholar
• Moser H W., Naidu S, Kumar A J., Rosenbaum A E. The adrenoleukodystrophies. Crit Rev Neurobiol 1987; 3: 29–88
   Google Scholar
• Danpure C J., Cooper P J., Wise P I., Jennings P R. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. J Cell Biol 1989; 108: 1345–52
   PubMed Web of Science ®Google Scholar
• Purdue P E., Takada Y, Danpure C J. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol 1990; 111: 2341–51
   PubMed Web of Science ®Google Scholar
• Moser H W., Moser A B., Powers J M., et al. The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured aminocytes and fetal adrenal gland. Pediatr Res 1982; 16: 172–5
   Google Scholar
• Boué J, Oberle I, Heilig R, et al. First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acids and by linkage analysis to a DNA probe. Hum Genet 1985; 69: 272–4
   Google Scholar
• Tager J M. Progress 91: Scientific symposium of leukodystrophy. ULF News 1991; 8: 5–11
   Google Scholar
• Moser H W., Bergin A, Cornblath D. Peroxisomal disorders. Biochem Cell Biol 1991; 69: 463–74
   PubMedGoogle Scholar
• Martinez M. Treatment with docosahexaenoic acid favourably modifies the fatty acid composition of erythrocytes in peroxisomal patients. New developments in fatty acid oxidation., P M. Coates, K Tanaka. Wiley-Liss, New York 1992, (in press)
   Google Scholar
• Kelley R I., Datta N S., Dobyns W B., et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 1986; 23: 869–901
   Google Scholar
• Poll-The B T., Sauderbray J M., Ogier H, et al. Infantile Ref sum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherited Metab Dis 1986; 9: 169–74
   Google Scholar
• Wanders R JA, van Roermund C WT, van Wijland M JA, et al. Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia. J Inherit Metab Dis 1988; 11(suppl. 2)161–4
   Google Scholar
• Eaton J W. Acatalasemia. The metabolic basis of inherited disease 6th ed., C R. Scriver, A L. Beaudet, W S. Sly, D Valle. McGraw-Hill, New York 1989; 1551–61
   Google Scholar