Population Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Analysis of Medium-Chain Fatty Acids and Acylglyeines in Blood Spots
Autor: | E. Schmidt-Sommerfeld, René Santer, Robert J Ostfeld, Michael J. Bennett, Marie C Ragni |
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Rok vydání: | 1994 |
Předmět: |
030213 general clinical medicine
Clinical Biochemistry Glycine 030209 endocrinology & metabolism Dehydrogenase Sensitivity and Specificity Acyl-CoA Dehydrogenase Gas Chromatography-Mass Spectrometry Fatty Acids Monounsaturated 03 medical and health sciences Neonatal Screening 0302 clinical medicine Acyl-CoA Dehydrogenases Reference Values Humans Detection limit chemistry.chemical_classification Newborn screening Chromatography biology Fatty Acids Infant Newborn Infant Acyl CoA dehydrogenase General Medicine Medium-Chain Acyl-CoA Dehydrogenase Deficiency Enzyme chemistry Biochemistry Child Preschool biology.protein Gas chromatography Caprylates Gas chromatography–mass spectrometry Decanoic Acids |
Zdroj: | Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 31:72-77 |
ISSN: | 1758-1001 0004-5632 |
Popis: | We have developed methods for the measurement of the medium-chain fatty acids octanoate, decanoate and cis-4-decenoate and the acylglycines n-hexanoylglycine (HG) and 3-phenylpropionylglycine (PPG) in blood spots using gas chromatography and mass spectrometry. Normal ranges were obtained for octanoate and decanoate. HG, PPG and cis-4-decenoic acid were not detected in control blood spots. In blood spots from nine patients (including two newborn) with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, all metabolites were present in elevated concentrations although PPG was close to the detection limits and there was overlap for octanoate and decanoate. The lack of detection of cis-4-decenoic acid and HG in controls suggests that these are the metabolites of choice for blood spot identification of infants with MCAD deficiency. |
Databáze: | OpenAIRE |
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