Very Large Peroxisomes in Distinct Peroxisomal Disorders (rhizomelic Chondrodysplasia Punctata and Acyl-CoA Oxidase Deficiency): Novel Data

Overview

Journal Virchows Arch A Pathol Anat Histopathol

Specialty Anatomy & Histology

Date 1991 Jan 1

PMID 1750197

Citations 7

Authors

D De Craemer

M J Zweens

S Lyonnet

R J Wanders

B T Poll-The

R B Schutgens

J J Waelkens

J M Saudubray

F Roels

Affiliations

Soon will be listed here.

Abstract

We report very large hepatic peroxisomes (d-circle greater than 1 micron) in a patient with rhizomelic chondrodysplasia punctata and a patient with acyl-CoA oxidase deficiency. The effects of peroxisomal enlargement on the enzymatic activity are discussed. As increase in peroxisomal size is also reported in at least 12 other patients with peroxisomal disorders, we propose a relationship between the enlargement of the organelles and their functional deficiency.

Citing Articles

The Roles of β-Oxidation and Cofactor Homeostasis in Peroxisome Distribution and Function in Arabidopsis thaliana.

Rinaldi M, Patel A, Park J, Lee K, Strader L, Bartel B Genetics. 2016; 204(3):1089-1115.

PMID: 27605050 PMC: 5105844. DOI: 10.1534/genetics.116.193169.

Secondary alterations of human hepatocellular peroxisomes.

De Craemer D J Inherit Metab Dis. 1995; 18 Suppl 1:181-213.

PMID: 9053551 DOI: 10.1007/BF00711439.

Practical guide for morphometry of human peroxisomes on electron micrographs.

Kerckaert I, De Craemer D, Van Limbergen G J Inherit Metab Dis. 1995; 18 Suppl 1:172-80.

PMID: 9053550 DOI: 10.1007/BF00711438.

Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.

Hebestreit H, Wanders R, Schutgens R, Espeel M, Kerckaert I, Roels F Eur J Pediatr. 1996; 155(12):1035-9.

PMID: 8956940 DOI: 10.1007/BF02532526.

Establishment of a normal range of morphometric values for peroxisomes in paediatric liver.

Hughes J, Bourne A, Poulos A Virchows Arch A Pathol Anat Histopathol. 1993; 423(6):453-7.

PMID: 8291218 DOI: 10.1007/BF01606535.

References

Hughes J, Poulos A, Robertson E, Chow C, Sheffield L, Christodoulou J . Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders. Virchows Arch A Pathol Anat Histopathol. 1990; 416(3):255-64. DOI: 10.1007/BF01678985. View

Naidu S, Hoefler G, Watkins P, Chen W, Moser A, Hoefler S . Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. Neurology. 1988; 38(7):1100-7. DOI: 10.1212/wnl.38.7.1100. View

Roels F, Pauwels M, Poll-The B, Scotto J, Ogier H, Aubourg P . Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: cytochemical and morphometric data. Virchows Arch A Pathol Anat Histopathol. 1988; 413(4):275-85. DOI: 10.1007/BF00783019. View

Roels F, Cornelis A . Heterogeneity of catalase staining in human hepatocellular peroxisomes. J Histochem Cytochem. 1989; 37(3):331-7. DOI: 10.1177/37.3.2918222. View

Roels F, Verdonck V, Pauwels M, De Catte L, Lissens W, Liebaers I . Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi. Prenat Diagn. 1987; 7(7):525-30. DOI: 10.1002/pd.1970070709. View

Poll-The B, Roels F, Ogier H, Scotto J, Vamecq J, Schutgens R . A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet. 1988; 42(3):422-34. PMC: 1715143. View

Veitch K, Draye J, Vamecq J, Causey A, Bartlett K, Sherratt H . Altered acyl-CoA metabolism in riboflavin deficiency. Biochim Biophys Acta. 1989; 1006(3):335-43. DOI: 10.1016/0005-2760(89)90021-0. View

CHRISTIANSEN E, Flatmark T, Kryvi H . Effects of marine oil diet on peroxisomes and mitochondria of rat liver. A combined biochemical and morphometric study. Eur J Cell Biol. 1981; 26(1):11-20. View

Poulos A, Sheffield L, Sharp P, Sherwood G, Johnson D, Beckman K . Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. J Pediatr. 1988; 113(4):685-90. DOI: 10.1016/s0022-3476(88)80378-0. View

10.

Boles D, Craft D, Padgett D, Loria R, Rizzo W . Clinical variation in X-linked adrenoleukodystrophy: fatty acid and lipid metabolism in cultured fibroblasts. Biochem Med Metab Biol. 1991; 45(1):74-91. DOI: 10.1016/0885-4505(91)90010-i. View

11.

Fringes B, Reith A . Time course of peroxisome biogenesis during adaptation to mild hyperthyroidism in rat liver: a morphometric/stereologic study by electron microscopy. Lab Invest. 1982; 47(1):19-26. View

12.

Kyllerman M, BLOMSTRAND S, Mansson J, Conradi N, Hindmarsh T . Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy. Neuropediatrics. 1990; 21(4):199-201. DOI: 10.1055/s-2008-1071495. View

13.

Roels F, Espeel M, De Craemer D . Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review. J Inherit Metab Dis. 1991; 14(6):853-75. DOI: 10.1007/BF01800464. View

14.

De Craemer D, Kerckaert I, Roels F . Hepatocellular peroxisomes in human alcoholic and drug-induced hepatitis: a quantitative study. Hepatology. 1991; 14(5):811-7. DOI: 10.1002/hep.1840140512. View

15.

Espeel M, Roels F, Van Maldergem L, De Craemer D, dAcremont G, Wanders R . Peroxisomal localization of the immunoreactive beta-oxidation enzymes in a neonate with a beta-oxidation defect. Pathological observations in liver, adrenal cortex and kidney. Virchows Arch A Pathol Anat Histopathol. 1991; 419(4):301-8. DOI: 10.1007/BF01606521. View