Hepatic peroxisomes in isolated hyperpipecolic acidaemia: Evidence supporting its classification as a single peroxisomal enzyme deficiency

Virchows Archiv

Volumn 436, Issue 5, 2000, Pages 459-465

  Kerckaert, I ^c   Poll The, B T ^a   Espeel, M ^d   Duran, M ^a   Roeleveld, A B C ^a   Wanders, R J A ^b   Roels, F ^d  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c GHENT UNIVERSITY   (Belgium)

^d NONE

Author keywords

Genetic disorders; Hyperpipecolic acidaemia; Morphometry; Peroxisomes; Pipecolic acid

Indexed keywords

CATALASE; LIVER ENZYME; PIPECOLIC ACID;

ACIDEMIA; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CYTOCHEMISTRY; DISEASE CLASSIFICATION; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTRON MICROSCOPY; ENZYME DEFICIENCY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LIVER BIOPSY; LIVER DISEASE; MALE; METABOLIC DISORDER; MICROSCOPY; MORPHOMETRICS; PEROXISOME; PRIORITY JOURNAL; SKIN FIBROBLAST;

ACYL-COA OXIDASE; ALANINE TRANSAMINASE; CATALASE; CELLS, CULTURED; CHILD; FEMALE; FIBROBLASTS; HUMANS; INFANT; LIVER DISEASES; MALE; OXIDOREDUCTASES; PEROXISOMAL DISORDERS; PEROXISOMES; SKIN; TRANSAMINASES;

EID: 0034025551     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004280050473     Document Type: Article

References (31)

1. 1. Baumgartner MR, Verhoeven NM, Jakobs C, Roels F, Espeel M, Martinez M, Rabier D, Wanders RJA, Saudubray JM (1998) Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. Neurology 51:1427-1432
2. 2. Beard ME, Moser AB, Sapirstein V, Holtzman E (1986) Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts. J Inher Metab Dis 9:321-334
3. 3. Burton BK, Reed SP, Remy WT (1981) Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings. J Pediatr 99:729-934
4. 4. Challa VR, Geisinger KR, Burton BK (1983) Pathologic alterations in the brain and liver in hyperpipecolic acidemia. J Neuropathol Exp Neurol 42:627-638
5. 5. Cox RD, Dancis J (1995) Errors of lysine metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 7th edn, vol I. McGraw-Hill, New York, pp 1233-1238
6. 6. De Craemer D (1995) Secondary alterations of human hepatocellular peroxisomes. In: Roels F, De Bie S, Schutgens RBH, Besley GTN (eds) Diagnosis of human peroxisomal disorders. A handbook. J Inher Metab Dis 18 [Suppl 1]:181-213
7. 7. Espeel M, Van Limbergen G (1995) Immunocytochemical localization of peroxisomal proteins in human liver and kidney. In: Roels F, De Bie S, Schutgens RBH, Besley GTN (eds) Diagnosis of human peroxisomal disorders. A handbook. J Inher Metab Dis 18 [Suppl 1]:135-154
8. 8. Espeel M, Mandel H, Poggi F, Smeitink JAM, Wanders RJA, Kerckaert I, Schutgens RBH, Saudubray JM, Poll-The BT, Roels F (1995) Peroxisome mosaicism in the livers of peroxisomal deficiency patients. Hepatology 22:497-504
9. 9. Gatfield PD, Taller E, Hinton GG, Wallace AC, Abdelnour GM, Haust MD (1968) Hyperpipecolatemia: a new metabolic disorder associated with neuropathy and hepatomegaly: a case study. Can Med Assoc J 99:1215-1233
10. 10. Horvath VAP, Wanders RJA (1994) Re-evaluation of conditions required for measurement of true AGT activity in human liver: implications for the diagnosis of hyperoxaluria type I. Ann Clin Biochem 31:361-366
11. 11. Kerckaert I, Dingemans KP, Heymans HSA, Vameq J, Roels F (1988) Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata [rhizomelic form], X-linked adrenoleukodystrophy). J Inher Metab Dis 11:372-386
12. 12. Kerckaert I, De Craemer D, Van Limbergen G (1995) Practical guide for morphometry of human peroxisomes on electron micrographs. In: Roels F, De Bie S, Schutgens RBH, Besley GTN (eds) Diagnosis of human peroxisomal disorders. A handbook. J Inher Metab Dis 18 [Suppl 1]:172-180
13. 13. Kerckaert I, Espeel M, De Craemer D, Mandel H, Eyskens F, Van Acker K, Poll-The BT, Smeitink JAM, Roels F (1996) Heterogeneity in primary hyperoxaluria type 1: morphometry and AGT-immunoreactivity of hepatic peroxisomes. J Inher Metab Dis 19 [Suppl 1]:84
14. 14. Kerckaert I, De Koning TJ, Poll-The BT, Roels F (1998) Alterations of hepatic peroxisomes in tyrosinaemia type I: return to fetal type? J Inher Metab Dis 21:186-190
15. 15. Lazarow PB, Moser HW (1995) Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn, vol II. McGraw-Hill, New York, pp 2287-2324
16. 16. Leroy JG, Espeel M, Gadisseux JF, Mandel H, Martinez M, Poll-The BT, Wanders RJA, Roels F (1995) Diagnostic workup of a peroxisomal patient. In: Roels F, De Bie S, Schutgens RBH, Besley GTN (eds) Diagnosis of human peroxisomal disorders. A handbook. J Inher Metab Dis 18 [Suppl 1]:214-222
17. 17. Mandel H, Espeel M, Roels F, Sofer N, Luder A, Iancu T, Aizin A, Berant M, Wanders RJA, Schutgens RBH (1994) A new type of peroxisomal disorder with variable expression in liver and fibroblasts. J Pediatr 125:549-555
18. 18. Mihalik SJ, Rhead WJ (1988) L-Pipecolic catabolism in mammals. Trans Am Soc Neurochem 19:72
19. 19. Mihalik SJ, McGuinness M, Watkins PA (1991) Purification and characterization of peroxisomal L-pipecolic acid oxidase from monkey liver. J Biol Chem 266:32768
20. 20. Poggi-Travert F, Fournier B, Poll-The BT, Saudubray JM (1995) Clinical approach to inherited peroxisomal disorders. In: Roels F, De Bie S, Schutgens RBH, Besley GTN (eds) Diagnosis of human peroxisomal disorders. A handbook. J Inher Metab Dis 18 [Suppl 1]:1-18
21. 21. Poll-The BT, Lombes A, Lenoir G, Parvy P, Scotto J, Vamecq J, Roels F, Saudubray JM (1988) Joubert's syndrome associated with hyperpipecolatemia. Three siblings. PhD thesis, University of Amsterdam, pp 201-219
22. 22. Roels F (1991) Peroxisomes: a personal account. VUB Press, Brussels, pp 1-151
23. 23. Roels F, Cornelis A (1989) Heterogeneity of catalase staining in human hepatocellular peroxisomes. J Histochem Cytochem 37:331-337
24. 24. Roels F, Espeel M, Mandel H, Poggi F, Smeitink JAM, Toorman J, Kerckaert I, Poll-The BT, Schutgens RBH, Wanders RJA, Hashimoto T, Saudubray JM (1995) Cell and tissue heterogeneity in peroxisomal patients. In: Wanders RJA, Schutgens RBH, Tabak HF (eds) Functions and biogenesis of peroxisomes in relation to human disease. North-Holland, Amsterdam, pp 271-294
25. 25. Roels F, De Prest B, De Pestel G (1995) Liver and chorion cytochemistry. In: Roels F, De Bie S, Schutgens RBH, Besley GTN (eds) Diagnosis of human peroxisomal disorders. A handbook. J Inher Metab Dis 18 [Suppl 1]:155-171
26. 26. Santos MJ, Kawada ME, Espeel M, Figuero C, Alvarez A, Hidalgo U, Metz C (1994) Characterization of human peroxisomal membrane proteins. J Biol Chem 269:24890-24896
27. 27. Thomas GH, Haslam RHA, Batshaw ML, Capute AJ, Niedengard L, Ransom JL (1975) Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. Clin Genet 8:376-382
28. 28. Wanders RJA, Van Roermund CWT, Van Wijland MJA, Schutgens RBH, Tager JM, Van den Bosch H, Thomas GH (1988) Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia. J Inher Metab Dis 11 [Suppl 2]:161-164
29. 29. Wanders RJA, Romein GJ, Schutgens RBH, Tager JM (1989) L-Pipecolate oxidase: a distinct peroxisomal enzyme in man. Biochem Biophys Res Commun 153:618-624
30. 30. Wanders RJA, Schutgens RBH, Barth PG (1995) Peroxisomal disorders: a review. J Neuropathol Exp Neurol 54:726-739
31. 31. Wiemer EAC, Out M, Schelen A, Wanders RJA, Schutgens RBH, Van den Bosch H, Tager JM (1991) Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group. Biochim Biophys Acta 1097:232-237