Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.

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.

• 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
• Journal: Virchows Archiv. A, Pathological anatomy and histopathology (Virchows Arch A Pathol Anat Histopathol) Vol. 419 Issue 6 Pg. 523-5 ( 1991) ISSN: 0174-7398 [Print] Germany
• PMID: 1750197 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Oxidoreductases
• Acyl-CoA Oxidase

Topics

• Acyl-CoA Oxidase
• Chondrodysplasia Punctata (pathology)
• Hip Joint
• Humans
• Infant
• Liver (ultrastructure)
• Male
• Microbodies (ultrastructure)
• Microscopy, Electron
• Oxidoreductases (deficiency)
• Reference Values
• Shoulder Joint