Progressive neurologic deterioration in a nine‐year‐old white male
1990; Wiley; Volume: 37; Issue: 4 Linguagem: Inglês
10.1002/ajmg.1320370413
ISSN1096-8628
AutoresLewis A. Barness, Sunita Chandra, Pamela J. Kling, Renata Laxová, David B. Allen, Enid Gilbert‐Barness,
Tópico(s)Dermatological and Skeletal Disorders
ResumoAmerican Journal of Medical GeneticsVolume 37, Issue 4 p. 489-503 Clinico-Pathological Report Progressive neurologic deterioration in a nine-year-old white male Lewis A. Barness M.D., Corresponding Author Lewis A. Barness M.D. Department of Pediatrics, University of Wisconsin Medical School, Madison, WisconsinH4/434 Clinical Science Center, University of Wisconsin Medical School, Madison, WI 53792Search for more papers by this authorSunita Chandra, Sunita Chandra Department of Pathology, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorPamela Kling, Pamela Kling Department of Pediatrics, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorRenata Laxova, Renata Laxova Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin Department of Medical Genetics, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorDavid B. Allen, David B. Allen Department of Pediatrics, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorEnid Gilbert-Barness, Enid Gilbert-Barness Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin Department of Pathology, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this author Lewis A. Barness M.D., Corresponding Author Lewis A. Barness M.D. Department of Pediatrics, University of Wisconsin Medical School, Madison, WisconsinH4/434 Clinical Science Center, University of Wisconsin Medical School, Madison, WI 53792Search for more papers by this authorSunita Chandra, Sunita Chandra Department of Pathology, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorPamela Kling, Pamela Kling Department of Pediatrics, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorRenata Laxova, Renata Laxova Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin Department of Medical Genetics, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorDavid B. Allen, David B. Allen Department of Pediatrics, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this authorEnid Gilbert-Barness, Enid Gilbert-Barness Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin Department of Pathology, University of Wisconsin Medical School, Madison, WisconsinSearch for more papers by this author First published: December 1990 https://doi.org/10.1002/ajmg.1320370413Citations: 1AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Bremer J (1977): Carnitine and its role in fatty acid metabolism. Trends Biochem Sci 2: 207–209. Brul S, Westerveld A, Strijland A, Wanders RJA, Schram AW, Heymous HSA, Scutgens RBH, Van den Bosch H, Tager JM (1988): Genetic heterogeneity in the cerebrohepato-renal syndrome (Zellweger) and other inherited disorders with a generalized impairment of peroxisomal function: A study using complement analysis. J Clin Invest 81: 1710–1715. Davis LE, Snyder RD, Orth DN, Nicholson WE, Kornfeld M, Seelinger DF (1979): Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred. Am J Med 66: 342–347. DeDuve C (1983): Microbodies in the living cell. Sci Am 248: 76–84. Gilchrist KW, Gilbert EF, Goldfarb S, Goll U, Spranger JW, Opitz JM (1976): Studies of malformation syndromes of man XIB: The cerebrohepatorenal syndrome of Zellweger: Comparative pathology. Eur J Pediatr 121: 99–118. Goldfischer SL, Collins J, Rapin I, Coltoff-Schiller CH, Chang M, Nigro V, Black N, Javitt NB, Moser HW, Lazarow PB (1985): Peroxisomal defects in neonatal onset and X-linked adrenoleukodystrophy. Science 227: 67–70. Goldfischer SL, Collins J, Rapin I, Neumann P, Neglia W, Spiro AJ, Ischii T, Roels F, Vamecq F, Vamecq J, VanHoff F (1986): Pseudo-Zellweger syndrome: Deficiencies in several perioxisomal oxidative activities. J Pediatr 108: 25–32. Griffin JW, Goren E, Schaumberg H, Engel WK, Loriaux L (1977): Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. Neurol (Minneapolis) 27: 1107–1113. Hagey LR, Krisants SK (1982): Degradation of cholesterol to propionic acid by rat liver peroxisomes. Biochem Biophys Res Commun 107: 834–841. Hajra AK, Bishop JE (1982): Glycerolipid biosynthesis in peroxisomes via the acyl-dihydroxyacetone phosphate pathway. Ann NY Acad Sci 386: 174–182. Hajra AK, Burke CL, Jones CL (1979): Subcellular localization of acylcoenzyme A: Dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies). J Biol Chem 254: 10896–10900. Hajra AK, Datta NS, Jackson LG, Moser AB, Moser HW, Larsen JW, Powers J (1985): Prenatal diagnosis of Zellweger cerebrohepatorenal syndroem. New Engl J Med 312: 445–446. Hanson RF, Szczepanick-Van Leeuwen P, Williams GC, Grabowski G, Sharp HL (1979): Defects of bile acid synthesis in Zellweger syndrome. Science 203: 1107–1108. Heymans HSA, Dorthuys JWE, Nelck G, Wanders RJA, Schutgens RBH (1985): Rhizomelic chondrodysplasia punctata, another peroxisomal disorder. New Engl J Med 313: 187–188. Hotta E (1977): Oxidation of spermidine and spermine in rat liver: Purification and properties of polyamine oxidase. Biochemistry 16: 91–100. Jaffe R, Crumsine P, Hashida Y, Moser HW (1982): Neonatal adrenoleukodystrophy. Clinical pathological and biochemical delineation of a syndrome affecting both males and females. Am J Pathol 198: 100–111. Kase F, Bjorkhem I, Pedersen JI (1983): Formation of cholic acid from 3d, 7a, 12a-trihydroxy-5β-cholestanoic acid by rat liver peroxisomes. J Lipid Res 24: 1560–1567. Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zachai EH, Moser HW (1986): Neonatal adrenoleukodystrophy: New cases, biochemical studies and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 23: 869–879. Kelley RI (1983): The cerebrohepatorenal syndrome of Zellweger. Morphologic and metabolic aspects. Am J Med Genet 16: 503–517. Laird C (1987): Proposed mechanism of inheritance and expression of the human fragile X syndrome of mental retardation. Genetics 117: 587–599. Lazarow PB, DeDuve C (1976): A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug. Proc Natl Acad Sci USA 73: 2043–2048. Mannaerts GP, Debeer LJ, Thomas J, de Schepper PJ, (1979): Mitochondrial and peroxisomal fatty acid oxidation in rat liver homogenates and isolated hepatocytes from control and clofibrate-treated rats. J Biol Chem 254: 4585–4595. Mortensen PB, Gregersen N, Rasmússen K (1983): The β-oxidation of dicarboxylic acid in isolated mitochondria and peroxisomes. J Inherited Metabol Dis 6 () suppl 2: 123–124. Moser HW (1986): Peroxisomal disorders. Editors column J Pediatr 1108: 89–91. Moser HW (1989): Peroxisomal disorders. Adv Pediatr 36: 1–38. Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumberg H, Kishimoto Y (1980): Adrenoleukodystrophy: Elevated C26 fatty acids in cultured skin fibroblasts. Ann Neurol 7: 542049. Moser HW, Moser AB, Powers JM, Nitowski HM, Schuamberg HH, Norum RA, Migeon BR (1982): The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid in cultured amniocytes and fetal adrenal gland. Pediatr Res 16: 172–175. Moser HW, Moser AE, Singh I, O'Neill BP (1984): Adrenoleukodystrophy: Survey of 303 cases;biochemistry, diagnosis and therapy. Ann Neurol 16: 628–644. Noetzel MJ, Landau WM, Moser HW (1987): Adrenoleukodystrophy: Carrier state presenting as a chronic nonprogressive spinal cord disorder. Arch Neurol 44: 566–567. Osmundsen H, Neat CJ, Borreback B (1980): Fatty acid products of peroxisomal β-oxidation. Int J Biochem 12: 625–630. O'Neill BP, Moser HW, Saxena KM (1982): Familial X-linked Addison disease as an expression of adrenoleukodystrophy: Elevated C26 fatty acids in cultured skin fibroblasts. Neurology 32: 543–547. Poll-The BT, Poulos A, Sharp P, Boué J, Ogier H, Odièvre M, Saudubray JM (1985): Antenatal diagnosis of Refsum's disease. Clin Genet 27: 524–526. Poll-The BT, Saudubray JM, Ogier HAM, Scotto JM, Monnens H, Govaerts LCP, Roels F, Cornelis A, Schutgens RBM, Wanders RJA, Schran AW, Trager JM (1987): Infantile Refsum's disease: An inherited peroxisomal disorder. Eur J Pediatr 146: 477–483. Rachubinski RA, Fuyiki Y, Mortensen RM, Lazarow PB (1984): Acyl-CoA oxidase and hydrase-dehydrogenase, two enzymes of beta oxidation system are synthesized in free polysomes of clofibratetreated rat liver. J Cell Biol 99: 2241–2246. Santos MJ, Imanaka T, Shio H, Small GM, Lazarow PB (1988): Peroxisomal membrane ghosts in Zellweger syndrome-aberrant organelle assembly. Science 239: 1536–1539. Schaumburg HH, Powers JM, Raine CS, Spencer PS, Griffin JW, Prineas JW, Boehme DM (1977): Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy II. Neurology 27: 1114–1119. Schutgens RBH, Heymans HSA, Wanders RJA, Bosch HD, Tager JM (1986): Peroxisomal disorders: A newly recognized group of genetic diseases. Eur J Pediatr 144: 430–440. Schaumberg HH, Powers JM, Raine CS, Suzuki K, Richardson EP Jr (1975): Adrenoleukodystrophy: A clinical and pathological study of 17 cases. Arch Neurol 32: 577–981. Schaumberg HH, Powers JM, Raine CS, Spencer PS, Griffin JW, Prineas JW, Boehme DM (1977): Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy II. Neurology 27: 1114–1119. Singh I, Moser AE, Goldfischer S, Moser HW (1984): Lignoceric acid is oxidized in the peroxisome: Implications for the Zellweger cerebrohepatorenal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci USA 81: 4203–4207. Stokke O, Strede S, Ek J, Bjorkhem (1984): Refsum's disease, Adrenoleukodystrophy and the Zellweger syndrome. Scand J Clin Lab Invest 44: 463–464. Trijbels J, Monnens L, Bakkeren J, Van Raay-Selten A, Cortiaensen J (1979): Biochemical studies in cerebrohepatorenal syndrome of Zellweger: A disturbance in the metabolism of pipecolic acid. J Inherit Metabol Dis 2: 39–42. Tolbert E (1981): Metabolic pathways in peroxisomes and glyoxisomes. Annu Rev Biochem 50: 133–157. Tsai C, Avigan J, Steinberg D (1969): Studies of the L oxidation of phytanic acid by rat liver mitochondria. J Biol Chem 244: 2682–2692. Van Oost BA, Van Zantvoort P, Hoogeboom A, Bakkeren J, Hamel B, Brunner H, Knoers N, Ropers H (1987): Tight linkage between adrenoleukodystrophy and DXS52 (Abstract). Cytogenet Cell Genet HGM9. Vamecq J, Van Hoof F, (1984): Implication of peroxisomal enzymes in the metabolism of glutamyl-CoA. Biochem J 221: 203–211. Wanders RJA, Schrakamp G, Van den Bosch H, Tager JM, Schutgens RBH (1986): A prenatal test for the cerebrohepatorenal (Zellweger) syndrome by demonstration of absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells. Eur J Pediatr 145: 136–138. Zellweger H (1989): Peroxisomopathies: New developments. Dev Med Child Neurol 31: 264–266. Citing Literature Volume37, Issue4December 1990Pages 489-503 ReferencesRelatedInformation
Referência(s)