Literature DB >> 6774167

Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids.

E W Naylor, L L Mosovich, R Guthrie, J E Evans, H Tieckelmann.   

Abstract

Two siblings with intermittent hypoglycaemia, lethargy and coma associated with fatty infiltration of the liver are reported. Urine contained C6 to C14-dicarboxylic acids.

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Year:  1980        PMID： 6774167     DOI： 10.1007/bf02312518

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  10 in total

1.  OMEGA-OXIDATION OF LONG CHAIN FATTY ACIDS IN RAT LIVER.

Authors:  B PREISS; K BLOCH
Journal:  J Biol Chem       Date:  1964-01       Impact factor: 5.157

2.  On the mechanism of dehydrogenation of fatty acyl derivatives of coenzyme A. I. The general fatty acyl coenzyme A dehydrogenase.

Authors:  F L CRANE; S MII; J G HAUGE; D E GREEN; H BEINERT
Journal:  J Biol Chem       Date:  1956-02       Impact factor: 5.157

3.  Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.

Authors:  N Gregersen; R Lauritzen; K Rasmussen
Journal:  Clin Chim Acta       Date:  1976-08-02       Impact factor: 3.786

4.  Formation of n-hexanedioic acid from hexadecanoic acid by an initial oxidation in ketotic rats.

Authors:  J E Pettersen
Journal:  Clin Chim Acta       Date:  1972-10       Impact factor: 3.786

5.  Urinary excretion of C6-C10 dicarboxylic acids in glycogen storage disease types I and 3.

Authors:  J Dosman; J C Crawhall; G A Klassen; O A Mamer; P Neumann
Journal:  Clin Chim Acta       Date:  1974-02-28       Impact factor: 3.786

6.  Aliphatic C 6 -C 14 dicarboxylic acids in urine from an infant with fatal congenital lactic acidosis.

Authors:  L Borg; S Lindstedt; G Steen; O Hjalmarson
Journal:  Clin Chim Acta       Date:  1972-10       Impact factor: 3.786

7.  The occurrence of adipic and suberic acid in urine from ketotic patients.

Authors:  J E Pettersen; E Jellum; L Eldjarn
Journal:  Clin Chim Acta       Date:  1972-04       Impact factor: 3.786

8.  The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.

Authors:  G Karpati; S Carpenter; A G Engel; G Watters; J Allen; S Rothman; G Klassen; O A Mamer
Journal:  Neurology       Date:  1975-01       Impact factor: 9.910

9.  Glutaric aciduria type II: report on a previously undescribed metabolic disorder.

Authors:  H Przyrembel; U Wendel; K Becker; H J Bremer; L Bruinvis; D Ketting; S K Wadman
Journal:  Clin Chim Acta       Date:  1976-01-16       Impact factor: 3.786

10.  A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.

Authors:  J P Blass; J Avigan; B W Uhlendorf
Journal:  J Clin Invest       Date:  1970-03       Impact factor: 14.808
  10 in total
  8 in total

Review 1.  Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.

Authors:  J Osterloh; W Cunningham; A Dixon; D Combest
Journal:  Med Toxicol Adverse Drug Exp       Date:  1989 Jul-Aug

Review 2.  The inborn errors of mitochondrial fatty acid oxidation.

Authors:  C Vianey-Liaud; P Divry; N Gregersen; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 3.  Defects of fatty acid oxidation in skeletal muscle.

Authors:  D M Turnbull; K Bartlett; N J Watmough; I M Shepherd; H S Sherratt
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathy.

Authors:  S R Bergmann; P Herrero; R Sciacca; J J Hartman; P J Rubin; K T Hickey; S Epstein; D P Kelly
Journal:  J Inherit Metab Dis       Date:  2001-11       Impact factor: 4.982

5.  A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

Authors:  J A Del Valle; M J Garcia; B Merinero; C Pérez-Cerdá; F Roman; A Jimenez; M Ugarte; M Martínez-Pardo; C Ludeña; C Camarero
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.

Authors:  P Divry; C Vianey-Liaud; J Cotte
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

7.  Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.

Authors:  N Gregersen
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.

Authors:  C Jakobs; L Sweetman; S K Wadman; M Duran; J M Saudubray; W L Nyhan
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183
  8 in total

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