Publication Date:
1985-01-04
Description:
Accumulation of very long chain fatty acids in X-linked and neonatal forms of adrenoleukodystrophy (ALD) appears to be a consequence of deficient peroxisomal oxidation of very long chain fatty acids. Peroxisomes were readily identified in liver biopsies taken from a patient having the X-linked disorder. However, in liver biopsies from a patient having neonatal-onset ALD, hepatocellular peroxisomes were greatly reduced in size and number, and sedimentable catalase was markedly diminished. The presence of increased concentrations of serum pipecolic acid and the bile acid intermediate, trihydroxycoprostanic acid, in the neonatal ALD patient are associated with a generalized diminution of peroxisomal activities that was not observed in the patient with X-linked ALD.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Goldfischer, S -- Collins, J -- Rapin, I -- Coltoff-Schiller, B -- Chang, C H -- Nigro, M -- Black, V H -- Javitt, N B -- Moser, H W -- Lazarow, P B -- AG-01468/AG/NIA NIH HHS/ -- AM-17702/AM/NIADDK NIH HHS/ -- N5-03356/PHS HHS/ -- etc. -- New York, N.Y. -- Science. 1985 Jan 4;227(4682):67-70.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3964959" target="_blank"〉PubMed〈/a〉
Keywords:
Adrenoleukodystrophy/genetics/metabolism/*pathology
;
Adult
;
Animals
;
Bile Acids and Salts/metabolism
;
Catalase/metabolism
;
Child
;
Child, Preschool
;
Diffuse Cerebral Sclerosis of Schilder/*pathology
;
Female
;
Humans
;
Liver/pathology
;
Male
;
Microbodies/*pathology
;
Oxidation-Reduction
;
Pipecolic Acids/blood
;
Rats
;
*X Chromosome
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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