Literature DB >> 6434844

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

P Divry, C Vianey-Liaud, J Cotte.   

Abstract

Two patients with hypoketotic hypoglycaemia and dicarboxylic aciduria are described. Studies of their urinary organic acids by gas chromatography-mass spectrometry (GC-MS) showed an excretion of dicarboxylic acids (adipic suberic and sebacic acids), unsaturated dicarboxylic acids (cis-octenedioic and decenedioic acids),5-hydroxyhexanoic acid, hexanoyl-glycine and suberylglycine. Deficiency of the medium chain acyl-CoA dehydrogenase (MCAD) in fibroblasts was documented for both children. Despite a similar presentation (hypoglycaemic coma), organic acid profile (dicarboxylic aciduria and suberylglycine excretion) and enzyme deficiency (MCAD), they did not respond similarly to glucose infusion.

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Year:  1984        PMID： 6434844     DOI： 10.1007/bf03047373

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


  16 in total

1.  [Hyperoctanoatemia and the hepatic encephalopathy of cirrhosis. 150 dosages in 61 patients (author's transl)].

Authors:  J Staeffen; J L Rabinowitz; P Aumonier; P Ballan; J Ferrer; R Terme; C Seriès; R M Myerson
Journal:  Nouv Presse Med       Date:  1979-05-05

2.  The differential diagnosis of dicarboxylic aciduria.

Authors:  M Duran; J B De Klerk; S K Wadman; L Bruinvis; D Ketting
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Dicarboxylic aciduria: the response to fasting.

Authors:  R J Truscott; L Hick; C Pullin; B Halpern; B Wilcken; H Griffiths; M Silink; H Kilham; F Grunseit
Journal:  Clin Chim Acta       Date:  1979-05-16       Impact factor: 3.786

4.  General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.

Authors:  N Gregersen; S Kølvraa; K Rasmussen; P B Mortensen; P Divry; M David; N Hobolth
Journal:  Clin Chim Acta       Date:  1983-08-15       Impact factor: 3.786

5.  Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.

Authors:  J M Saudubray; F X Coudé; F Demaugre; C Johnson; K M Gibson; W L Nyhan
Journal:  Pediatr Res       Date:  1982-10       Impact factor: 3.756

6.  (omega-1)-Hydroxymonocarboxylic acids in urine of infants fed medium-chain triglycerides.

Authors:  Y Shigematsu; T Momoi; M Sudo; Y Suzuki
Journal:  Clin Chem       Date:  1981-10       Impact factor: 8.327

7.  The possible antiketogenic and gluconeogenic effect of the omega-oxidation of fatty acids in rats.

Authors:  P B Mortensen
Journal:  Biochim Biophys Acta       Date:  1980-11-07

8.  Episodic hypoglycemia with psi-hydroxy fatty acid excretion.

Authors:  E Colle; O A Mamer; J A Montgomery; J D Miller
Journal:  Pediatr Res       Date:  1983-02       Impact factor: 3.756

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

Authors:  E W Naylor; L L Mosovich; R Guthrie; J E Evans; H Tieckelmann
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

10.  Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia.

Authors:  O A Mamer; J A Montgomery; E Colle
Journal:  Biomed Mass Spectrom       Date:  1980-02
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  5 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

3.  Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.

Authors:  P D Maaswinkel-Mooy; B J Poorthuis; H H van Gelderen; J J van de Kamp
Journal:  Arch Dis Child       Date:  1987-10       Impact factor: 3.791

4.  Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening.

Authors:  N Napolitano; V Wiley; J J Pitt
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

5.  Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.

Authors:  Zhuwen Gong; Lili Liang; Wenjuan Qiu; Huiwen Zhang; Jun Ye; Yu Wang; Wenjun Ji; Ting Chen; Xuefan Gu; Lianshu Han
Journal:  Front Genet       Date:  2021-03-23       Impact factor: 4.599
  5 in total

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