Abstract |
The urinary excretion of adipic acid, suberic acid and sebacic acid from two patients with the cerebrohepato-renal syndrome of Zellweger was studied. The patients had a complete lack of peroxisomes in the liver as judged by electron microscopy. In the non-ketotic state, the total excretion of free and conjugated adipic acid, suberic acid and sebacic acid was increased by about 100%, 200% and 350%, respectively, as compared to the corresponding excretion from six healthy infants of the same age. The excretion of free dicarboxylic acid was increased to a considerably lesser extent than the free + conjugated dicarboxylic acid. In view of the presence of adipic acid in urine of the Zellweger patients, it is concluded that peroxisomes are not obligatory for beta-oxidation of medium-chain dicarboxylic acids in vivo. The relative accumulation of suberic acid and sebacic acid as compared to adipic acid is, however, consistent with a relative block in the conversion of suberic acid and sebacic acid into adipic acid in patients with the Zellweger syndrome.
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Authors | I Björkhem, S Blomstrand, P Hågå, B F Kase, E Palonek, J I Pedersen, B Strandvik, S A Wikström |
Journal | Biochimica et biophysica acta
(Biochim Biophys Acta)
Vol. 795
Issue 1
Pg. 15-9
(Aug 15 1984)
ISSN: 0006-3002 [Print] Netherlands |
PMID | 6466694
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Dicarboxylic Acids
(urine)
- Female
- Humans
- Infant
- Liver
(metabolism)
- Metabolism, Inborn Errors
(urine)
- Microbodies
(metabolism)
- Oxidation-Reduction
- Syndrome
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