Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
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Summary
In all these diseases acylglycine excretion seems to be less influenced by the clinical status than organic acid excretion, complementary to organic acids and acylcarnitine profiles.
- Type
- article
- Published
- 2000-04-01
- Cited by
- 71
- References
- 21
- OpenAlex
- https://openalex.org/W2120601805
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:25909296
Keywords
Chemistry, Methylmalonic aciduria, Excretion, Urinary system, Tandem mass spectrometry
References
- The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
- Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry.
- Fatty acid oxidation : clinical biochemical, and molecular aspects
- Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry.
- Serum cysteine proteinase inhibitors with special reference to kidney failure.
- Fatty acid oxidation disorders: a new class of metabolic diseases.
- The enzymes of mitochondrial fatty acid oxidation.
- The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry
- Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
- Synthesis and characterisation of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism.
- Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation
- The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias.
- N-acylglycine amidation: implications for the biosynthesis of fatty acid primary amides.
- Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency.
- Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection.
- Branched-chain organic acidurias.
- Measurement of urinary medium chain acyl glycines by gas chromatography--negative ion chemical ionization mass spectrometry.
- Mass spectrometric analysis of metabolite excretion in five Japanese patients with the late-onset form of glutaric aciduria type II.
- Reaction of alkaline sodium picrate with creatinine: I. Kinetics and mechanism of formation of the mono-creatinine picric acid complex.
- Population Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Analysis of Medium-Chain Fatty Acids and Acylglyeines in Blood Spots
Cited by
- Urinary metabolic profiling for detection of metabolic disorders: assessment report
- EFEITOS IN VITRO E EX VIVO DOS PRINCIPAIS COMPOSTOS ACUMULADOS NAS ACIDEMIAS ISOVALÉRICA, 3-METILGLUTACÔNICA E 3-HIDROXI-3-METILGLUTÁRICA SOBRE VÁRIOS PARÂMETROS DO METABOLISMO ENERGÉTICO EM CÓRTEX CEREBRAL DE RATOS JOVENS
- The Leishmania TDR1 family-related gene: functional studies and evaluation of TDR1 recombinant protein as a vaccine agaist leishmaniasis
- Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release
- Biosynthesis of oleamide.
- Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).
- Evidence that 3‐hydroxy‐3‐methylglutaric acid promotes lipid and protein oxidative damage and reduces the nonenzymatic antioxidant defenses in rat cerebral cortex
- Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency as compared to liver
- Glycine conjugation: importance in metabolism, the role of glycine N-acyltransferase, and factors that influence interindividual variation
- Detection of acylglycines in urine by 1H and 13C NMR for the diagnosis of inborn metabolic diseases.
- Direct infusion mass spectrometry or liquid chromatography mass spectrometry for human metabonomics? A serum metabonomic study of kidney cancer.
- 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
- Use of diagnostic neutral losses for structural information on unknown aromatic metabolites: an experimental and theoretical study.
- Ultrahigh resolution mass spectrometry-based metabolic characterization reveals cerebellum as a disturbed region in two animal models.
- Identification of crotonyl glycine in urine of sheep after 48 h road transport.
- In vivo evidence that N-oleoylglycine acts independently of its conversion to oleamide.
- Expression, purification, and characterization of mouse glycine N-acyltransferase in Escherichia coli.
- In vivo experimental evidence that the major metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency induce oxidative stress in striatum of developing rats: a potential pathophysiological mechanism of striatal damage in this disorder.
- Use of reversed phase HP liquid chromatography to assay conversion of N-acylglycines to primary fatty acid amides by peptidylglycine-alpha-amidating monooxygenase.
- Quantitative Acylcarnitine Profiling in Peripheral Blood Mononuclear Cells Using In Vitro Loading With Palmitic and 2-Oxoadipic Acids: Biochemical Confirmation of Fatty Acid Oxidation and Organic Acid Disorders
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