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Literature DB >> 2246856

Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.

M J Bennett¹, P M Coates, D E Hale, D S Millington, R J Pollitt, P Rinaldo, C R Roe, K Tanaka.

Abstract

In order to determine which are useful early diagnostic markers for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we have analysed urine from an asymptomatic neonate. Profiling of urinary organic acids followed by peak confirmation by electron impact mass spectrometry revealed a high suberate/adipate ratio (greater than 1.0) and the presence of n-hexanoylglycine (HG). Acylcarnitine analysis by fast atom bombardment mass spectrometry (FAB-MS) was inconclusive, but FAB-MS/MS (tandem mass spectrometry) revealed diagnostic amounts of octanoylcarnitine and hexanoylcarnitine. Quantitative analysis of acylglycines by stable isotope dilution and chemical ionization mass spectrometry revealed a 30-fold increase in HG and increased suberylglycine, but no increase in 3-phenylpropionylglycine.

Entities: Chemical Disease

Mesh：

Substances：

Year: 1990 PMID： 2246856 DOI： 10.1007/bf01799572

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

18 in total

1. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue.

Authors: D S Millington; D L Norwood; N Kodo; C R Roe; F Inoue
Journal: Anal Biochem Date: 1989-08-01 Impact factor: 3.365

2. Generalised dicarboxylic aciduria: a common finding in neonates.

Authors: M Downing; P Rose; M J Bennett; N J Manning; R J Pollitt
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

3. Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.

Authors: P Rinaldo; J J O'Shea; S I Goodman; L V Miller; P V Fennessey; D T Whelan; R E Hill; K Tanaka
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

4. The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency.

Authors: J W Seakins; G Rumsby
Journal: J Inherit Metab Dis Date: 1988 Impact factor: 4.982

5. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.

Authors: M J Bennett; F Allison; R J Pollitt; N J Manning; R G Gray; A Green; D E Hale; P M Coates
Journal: Lancet Date: 1987-02-21 Impact factor: 79.321

6. The incidence and presentation of dicarboxylic aciduria.

Authors: M J Bennett; E Worthy; R J Pollitt
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

7. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.

Authors: P Rinaldo; J J O'Shea; P M Coates; D E Hale; C A Stanley; K Tanaka
Journal: N Engl J Med Date: 1988-11-17 Impact factor: 91.245

8. Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Authors: M Duran; M Hofkamp; W J Rhead; J M Saudubray; S K Wadman
Journal: Pediatrics Date: 1986-12 Impact factor: 7.124

9. 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

10. Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

Authors: C R Roe; D S Millington; D A Maltby; T P Bohan; S G Kahler; R A Chalmers
Journal: Pediatr Res Date: 1985-05 Impact factor: 3.756

6 in total

Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.

1. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue.

2. Generalised dicarboxylic aciduria: a common finding in neonates.

3. Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.

4. The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency.

5. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.

6. The incidence and presentation of dicarboxylic aciduria.

7. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.

8. Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

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

10. Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

Review 1. Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

2. Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

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

4. Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".

Review 5. New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders.

Review 6. Recent Advances in Panax ginseng C.A. Meyer as a Herb for Anti-Fatigue: An Effects and Mechanisms Review.