Literature DB >> 3168281

3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia.

R I Kelley1, D H Morton.   

Abstract

A four-month-old child with non-ketotic hypoglycemia and rapidly progressive cirrhosis excreted in her urine large amounts of two unidentified organic acids in addition to a spectrum of saturated, unsaturated, and 3-hydroxy dicarboxylic acids in her urine. Gas chromatography/mass spectrometry of the trimethylsilyl derivative of one of the unknown compounds suggested the structure of 3-hydroxyoctanoic acid, which was confirmed by similar analysis of the authentic compound. The same organic acid was found in the child's plasma. The significance of 3-hydroxyoctanoic aciduria as a possible marker for a primary defect of 3-hydroxy fatty acid metabolism is discussed.

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Year:  1988        PMID： 3168281     DOI： 10.1016/0009-8981(88)90031-9

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  9 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  H Przyrembel; C Jakobs; L IJlst; J B de Klerk; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.

Authors:  R J Wanders; L Ijlst; M Duran; C Jakobs; J B de Klerk; H Przyrembel; F Rocchiccioli; P Aubourg
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.

Authors:  R I Kelley; J N Stamas
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

4.  Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

Authors:  E Mayatepek; R J Wanders; M Becker; H J Bremer; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 5.  Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.

Authors:  M Duran; R J Wanders; J P de Jager; L Dorland; L Bruinvis; D Ketting; L Ijlst; F J van Sprang
Journal:  Eur J Pediatr       Date:  1991-01       Impact factor: 3.183

7.  Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  J Bergoffen; P Kaplan; D E Hale; M J Bennett; G T Berry
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

Authors:  J C Brackett; H F Sims; P Rinaldo; S Shapiro; C K Powell; M J Bennett; A W Strauss
Journal:  J Clin Invest       Date:  1995-05       Impact factor: 14.808

9.  Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.

Authors:  S E Olpin; N J Manning; K Carpenter; B Middleton; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  9 in total

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