Document Detail

Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease.
MedLine Citation:
PMID:  9259985     Owner:  NLM     Status:  MEDLINE    
The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesis and/or from dysfunction of single or multiple peroxisomal enzymes. We described earlier an 8 1/2 year-old with a history of progressive developmental delay, micronodular cirrhosis, and elevated very long chain fatty acids in plasma and skin fibroblasts. These findings were felt to be compatible with both neonatal adrenoleukodystrophy (nALD) and Zellweger syndrome (ZS). This patient is now 21 years old and his clinical course, inconsistent with either nALD or ZS, led us to examine his peroxisomal status in light of a possible new peroxisomal disease. The normal levels of bile acid precursors found in this patient suggest that peroxisomal beta-oxidation is functional. The activities of dihydroxyacetone phosphate acyltransferase and oxidation of lignoceric acid and phytanic acid were 14, 17, and 15% of the control, respectively. This partial activity for oxidation and the normal levels of bile acid precursors suggests that this patient has peroxisomes containing beta-oxidation enzymes. Western blot analysis of subcellular organelles showed that beta-oxidation enzyme proteins are present at normal levels in catalase-negative peroxisomes of density equivalent to normal peroxisomes. The presence of acyl-CoA oxidase and 3-ketoacyl-CoA thiolase in catalase-negative peroxisomes suggests that both peroxisomal targeting signal-1 (PTS-1), and peroxisomal targeting signal-2 (PTS-2)-mediated protein transport processes into peroxisomes are normal in this patient. These findings of catalase-negative peroxisomes of normal density and normal PTS-1 and PTS-2 import machinery with partial peroxisomal functions clearly demonstrate that this patient differs from those with known disorders of peroxisomal biogenesis.
I Singh; R G Voigt; F G Sheikh; K Kremser; F R Brown
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Biochemical and molecular medicine     Volume:  61     ISSN:  1077-3150     ISO Abbreviation:  Biochem. Mol. Med.     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1997-10-23     Completed Date:  1997-10-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9508702     Medline TA:  Biochem Mol Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  198-207     Citation Subset:  IM    
Pediatrics Department, Medical University of South Carolina, Charleston 29425, USA.
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MeSH Terms
Catalase / metabolism
Cells, Cultured
Electron Transport Complex IV / metabolism
Fibroblasts / metabolism
Microbodies / metabolism*
NADH Dehydrogenase / metabolism
Proteins / metabolism*
Zellweger Syndrome / blood,  metabolism*,  urine
Grant Support
Reg. No./Substance:
0/Proteins; EC; EC Dehydrogenase; EC Transport Complex IV

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