Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.
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.
De Craemer
D
D
Department of Human Anatomy and Embryology, Vrije Universiteit, Brussels, Belgium.
Zweens
M J
MJ
Lyonnet
S
S
Wanders
R J
RJ
Poll-The
B T
BT
Schutgens
R B
RB
Waelkens
J J
JJ
Saudubray
J M
JM
Roels
F
F
D042962:Acyl-CoA Oxidase; D002806:Chondrodysplasia Punctata / Q000473:pathology*; D006621:Hip Joint; D006801:Humans; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008297:Male; D008830:Microbodies / Q000648:ultrastructure*; D008854:Microscopy, Electron; D010088:Oxidoreductases / Q000172:deficiency*; D012016:Reference Values; D012785:Shoulder Joint
D010088:Oxidoreductases; D042962:Acyl-CoA Oxidase