Use of a Standard Newborn Screening Test for the Rapid Diagnosis of Inhibited ß-Oxidation in Atypical Myopathy in Horses
Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Sander, Johannes [verfasserIn] |
|---|
| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018transfer abstract |
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| Schlagwörter: |
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| Umfang: |
4 |
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| Übergeordnetes Werk: |
Enthalten in: Neurophysiology of hypnosis - Vanhaudenhuyse, A. ELSEVIER, 2014transfer abstract, JEVS, New York, NY |
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| Übergeordnetes Werk: |
volume:67 ; year:2018 ; pages:71-74 ; extent:4 |
| Links: |
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| DOI / URN: |
10.1016/j.jevs.2018.03.010 |
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| 520 | |a Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. | ||
| 520 | |a Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. | ||
| 650 | 7 | |a Hypoglycin A |2 Elsevier | |
| 650 | 7 | |a Atypical myopathy in horses |2 Elsevier | |
| 650 | 7 | |a Acylcarnitine |2 Elsevier | |
| 650 | 7 | |a Sapindaceae |2 Elsevier | |
| 650 | 7 | |a Multiple acyl-CoA dehydrogenase deficiency |2 Elsevier | |
| 650 | 7 | |a Dried serum spot |2 Elsevier | |
| 700 | 1 | |a Terhardt, Michael |4 oth | |
| 700 | 1 | |a Sander, Stefanie |4 oth | |
| 700 | 1 | |a Janzen, Nils |4 oth | |
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10.1016/j.jevs.2018.03.010 doi GBV00000000000288A.pica (DE-627)ELV043653715 (ELSEVIER)S0737-0806(17)30577-4 DE-627 ger DE-627 rakwb eng 630 630 DE-600 610 VZ 580 004 620 VZ BIODIV DE-30 fid 54.21 bkl 44.00 bkl Sander, Johannes verfasserin aut Use of a Standard Newborn Screening Test for the Rapid Diagnosis of Inhibited ß-Oxidation in Atypical Myopathy in Horses 2018transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Hypoglycin A Elsevier Atypical myopathy in horses Elsevier Acylcarnitine Elsevier Sapindaceae Elsevier Multiple acyl-CoA dehydrogenase deficiency Elsevier Dried serum spot Elsevier Terhardt, Michael oth Sander, Stefanie oth Janzen, Nils oth Enthalten in Elsevier Science Vanhaudenhuyse, A. ELSEVIER Neurophysiology of hypnosis 2014transfer abstract JEVS New York, NY (DE-627)ELV017823560 volume:67 year:2018 pages:71-74 extent:4 https://doi.org/10.1016/j.jevs.2018.03.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV GBV_ILN_70 54.21 Rechnerperipherie Datenkommunikationshardware VZ 44.00 Medizin: Allgemeines VZ AR 67 2018 71-74 4 045F 630 |
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10.1016/j.jevs.2018.03.010 doi GBV00000000000288A.pica (DE-627)ELV043653715 (ELSEVIER)S0737-0806(17)30577-4 DE-627 ger DE-627 rakwb eng 630 630 DE-600 610 VZ 580 004 620 VZ BIODIV DE-30 fid 54.21 bkl 44.00 bkl Sander, Johannes verfasserin aut Use of a Standard Newborn Screening Test for the Rapid Diagnosis of Inhibited ß-Oxidation in Atypical Myopathy in Horses 2018transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Hypoglycin A Elsevier Atypical myopathy in horses Elsevier Acylcarnitine Elsevier Sapindaceae Elsevier Multiple acyl-CoA dehydrogenase deficiency Elsevier Dried serum spot Elsevier Terhardt, Michael oth Sander, Stefanie oth Janzen, Nils oth Enthalten in Elsevier Science Vanhaudenhuyse, A. ELSEVIER Neurophysiology of hypnosis 2014transfer abstract JEVS New York, NY (DE-627)ELV017823560 volume:67 year:2018 pages:71-74 extent:4 https://doi.org/10.1016/j.jevs.2018.03.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV GBV_ILN_70 54.21 Rechnerperipherie Datenkommunikationshardware VZ 44.00 Medizin: Allgemeines VZ AR 67 2018 71-74 4 045F 630 |
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10.1016/j.jevs.2018.03.010 doi GBV00000000000288A.pica (DE-627)ELV043653715 (ELSEVIER)S0737-0806(17)30577-4 DE-627 ger DE-627 rakwb eng 630 630 DE-600 610 VZ 580 004 620 VZ BIODIV DE-30 fid 54.21 bkl 44.00 bkl Sander, Johannes verfasserin aut Use of a Standard Newborn Screening Test for the Rapid Diagnosis of Inhibited ß-Oxidation in Atypical Myopathy in Horses 2018transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Hypoglycin A Elsevier Atypical myopathy in horses Elsevier Acylcarnitine Elsevier Sapindaceae Elsevier Multiple acyl-CoA dehydrogenase deficiency Elsevier Dried serum spot Elsevier Terhardt, Michael oth Sander, Stefanie oth Janzen, Nils oth Enthalten in Elsevier Science Vanhaudenhuyse, A. ELSEVIER Neurophysiology of hypnosis 2014transfer abstract JEVS New York, NY (DE-627)ELV017823560 volume:67 year:2018 pages:71-74 extent:4 https://doi.org/10.1016/j.jevs.2018.03.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV GBV_ILN_70 54.21 Rechnerperipherie Datenkommunikationshardware VZ 44.00 Medizin: Allgemeines VZ AR 67 2018 71-74 4 045F 630 |
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10.1016/j.jevs.2018.03.010 doi GBV00000000000288A.pica (DE-627)ELV043653715 (ELSEVIER)S0737-0806(17)30577-4 DE-627 ger DE-627 rakwb eng 630 630 DE-600 610 VZ 580 004 620 VZ BIODIV DE-30 fid 54.21 bkl 44.00 bkl Sander, Johannes verfasserin aut Use of a Standard Newborn Screening Test for the Rapid Diagnosis of Inhibited ß-Oxidation in Atypical Myopathy in Horses 2018transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Hypoglycin A Elsevier Atypical myopathy in horses Elsevier Acylcarnitine Elsevier Sapindaceae Elsevier Multiple acyl-CoA dehydrogenase deficiency Elsevier Dried serum spot Elsevier Terhardt, Michael oth Sander, Stefanie oth Janzen, Nils oth Enthalten in Elsevier Science Vanhaudenhuyse, A. ELSEVIER Neurophysiology of hypnosis 2014transfer abstract JEVS New York, NY (DE-627)ELV017823560 volume:67 year:2018 pages:71-74 extent:4 https://doi.org/10.1016/j.jevs.2018.03.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV GBV_ILN_70 54.21 Rechnerperipherie Datenkommunikationshardware VZ 44.00 Medizin: Allgemeines VZ AR 67 2018 71-74 4 045F 630 |
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10.1016/j.jevs.2018.03.010 doi GBV00000000000288A.pica (DE-627)ELV043653715 (ELSEVIER)S0737-0806(17)30577-4 DE-627 ger DE-627 rakwb eng 630 630 DE-600 610 VZ 580 004 620 VZ BIODIV DE-30 fid 54.21 bkl 44.00 bkl Sander, Johannes verfasserin aut Use of a Standard Newborn Screening Test for the Rapid Diagnosis of Inhibited ß-Oxidation in Atypical Myopathy in Horses 2018transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. Hypoglycin A Elsevier Atypical myopathy in horses Elsevier Acylcarnitine Elsevier Sapindaceae Elsevier Multiple acyl-CoA dehydrogenase deficiency Elsevier Dried serum spot Elsevier Terhardt, Michael oth Sander, Stefanie oth Janzen, Nils oth Enthalten in Elsevier Science Vanhaudenhuyse, A. ELSEVIER Neurophysiology of hypnosis 2014transfer abstract JEVS New York, NY (DE-627)ELV017823560 volume:67 year:2018 pages:71-74 extent:4 https://doi.org/10.1016/j.jevs.2018.03.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV GBV_ILN_70 54.21 Rechnerperipherie Datenkommunikationshardware VZ 44.00 Medizin: Allgemeines VZ AR 67 2018 71-74 4 045F 630 |
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Use of a Standard Newborn Screening Test for the Rapid Diagnosis of Inhibited ß-Oxidation in Atypical Myopathy in Horses |
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Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. |
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Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. |
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Atypical myopathy (AM) in horses is caused by ingestion of seeds or seedlings of some maple trees (Acer species, sapindaceae family). Elevated concentrations of acyl conjugates, a sign of inhibited ß-oxidation of fatty acids, are diagnostic for AM. Quantification of acyl conjugates is currently not part of the standard test scheme of veterinary laboratories but is done routinely in laboratories screening human newborns for inborn errors of metabolism. It was our aim to show that the screening method, which is based on the use of whole blood dried on filter paper, can be applied to samples from horses with the single methodological adaptation, that is, spotting serum instead of whole blood on the filter paper. Acylcarnitines (ACs) were measured by tandem mass spectrometry after butylation. Results were compared with those obtained by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) in the corresponding liquid samples. Inhibition of fatty acid ß-oxidation was unequivocally shown by elevated concentrations of butyryl-/isobutyrylcarnitine, valeryl-/isovalerylcarnitine, and hexanoylcarnitine (intraday coefficient of variation < 20%) in horses affected by AM. To be able to use the existing analytic tools and methods of the screening laboratories, no attempt was made to include the toxins and their metabolites in the test. Rapid diagnosis of inhibited ß-oxidation indicating AM in horses is possible by a routine test available in pediatric screening laboratories. |
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