Glyceryl ethers in peroxisomal disease
作者:
A. Poulos,
A. Bankier,
K. Beckman,
D. Johnson,
E. F. Robertson,
P. Sharp,
L. Sheffield,
H. Singh,
S. Usher,
G. Wise,
期刊:
Clinical Genetics
(WILEY Available online 1991)
卷期:
Volume 39,
issue 1
页码: 13-25
ISSN:0009-9163
年代: 1991
DOI:10.1111/j.1399-0004.1991.tb02980.x
出版商: Blackwell Publishing Ltd
关键词: glyceryl ether lipids;infantile Refsum's disease;neonatal adrenoleukodystrophy;peroxisomal disorders;plasmalogens;rhizomelic chondrodysplasia punctata;Zellweger's syndrome
数据来源: WILEY
摘要:
1‐O‐Alkyl and 1‐O‐alk‐1‐enyl (plasmalogens) glyceryl ether lipid levels were measured in postmortem 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 occursin vivoin 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 live
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