Literature DB >> 6893290

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

O A Mamer, J A Montgomery, E Colle.   

Abstract

A patient with recurrent severe hypoglycemia resembling Reye's syndrome was found to have large accumulations of omega -- 1 hydroxy and keto acids in serum and urine that persisted following clinical recovery. A deficiency of mitochondrial medium chain acyl CoA dehydrogenase activity is proposed on the basis of evidence obtained using gas chromatographic mass spectrometric techniques. Analytical data is presented that will allow the recognition of ths variant presenting in other patients.

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Year:  1980        PMID: 6893290     DOI: 10.1002/bms.1200070203

Source DB:  PubMed          Journal:  Biomed Mass Spectrom        ISSN: 0306-042X


  7 in total

Review 1.  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

2.  Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

Authors:  M Duran; J B de Klerk; S K Wadman; H R Scholte; R P Beekman; F G Jennekens
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

3.  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

4.  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

5.  Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.

Authors:  D Chitayat; A Balbul; V Hani; O A Mamer; C Clow; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

6.  Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Authors:  B A Amendt; W J Rhead
Journal:  J Clin Invest       Date:  1985-09       Impact factor: 14.808

7.  Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  J J Pitt
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

  7 in total

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