Glyceryl ethers in peroxisomal disease.
1-O-Alkyl and 1-O-alk-1-enyl (plasmalogens) glyceryl ether lipid levels were measured in post-mortem brain and/or liver biopsies from 7 patients with ultrastructural and biochemical evidence of a defect in peroxisomal biogenesis and/or enzymological evidence of a disturbance in ether lipid synthesis. Near normal levels of both species of glyceryl ether lipids were found in neonatal adrenoleukodystrophy and infantile Refsum's disease but marked deficiencies were found in Zellweger's syndrome and rhizomelic chondrodysplasia punctata, the latter manifesting the most profound reduction in ether lipid levels. These observations suggest that little ether lipid biosynthesis occurs in vivo in rhizomelic chondrodysplasia punctata or Zellweger's syndrome. However, in some phenotypes with apparently gross reductions in peroxisomal numbers, e.g. neonatal adrenoleukodystrophy and infantile Refsom's disease, there is significant ether lipid synthesis in liver and brain.
Poulos
A
A
Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.
Bankier
A
A
Beckman
K
K
Johnson
D
D
Robertson
E F
EF
Sharp
P
P
Sheffield
L
L
Singh
H
H
Usher
S
S
Wise
G
G
D000326:Adrenoleukodystrophy / Q000378:metabolism*; D001923:Brain Chemistry; D002806:Chondrodysplasia Punctata / Q000378:metabolism*; D005260:Female; D005995:Glyceryl Ethers / Q000737:chemistry / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015227:Lipid Peroxidation; D008055:Lipids / Q000096:biosynthesis*; D008099:Liver / Q000737:chemistry; D008297:Male; D008830:Microbodies / Q000201:enzymology*; D010955:Plasmalogens / Q000096:biosynthesis / Q000097:blood; D012035:Refsum Disease / Q000378:metabolism*; D015211:Zellweger Syndrome / Q000378:metabolism*
D005995:Glyceryl Ethers; D008055:Lipids; D010955:Plasmalogens