Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses

Background: Atypical myopathy (AM), an acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in horses, induce changes in mitochondrial metabolism. Only few veterinary laboratories offer diagnostic testing for this disease. Inborn and acquired MADD exist in humans, therefore determination of or...

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Autores principales:	Déborah Mathis, Jörn Oliver Sass, Claudia Graubner, Angelika Schoster
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Acquired multiple acyl-CoA dehydrogenase deficiency Seasonal pasture myopathy Hypoglycin A Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/94ed41f643b04f99b3a8537fa780aea2
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spelling	oai:doaj.org-article:94ed41f643b04f99b3a8537fa780aea22021-11-26T04:29:33ZDiagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses2214-426910.1016/j.ymgmr.2021.100827https://doaj.org/article/94ed41f643b04f99b3a8537fa780aea22021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2214426921001221https://doaj.org/toc/2214-4269Background: Atypical myopathy (AM), an acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in horses, induce changes in mitochondrial metabolism. Only few veterinary laboratories offer diagnostic testing for this disease. Inborn and acquired MADD exist in humans, therefore determination of organic acids (OA) in urine and acylcarnitines (AC) in blood by assays available in medical laboratories can serve as AM diagnostics. The evolution of OA and AC profiles in surviving horses is unreported. Methods: AC profiles using electrospray ionization tandem mass spectrometry (ESI-MS/MS) and OA in urine using gas chromatography mass spectrometry (GC–MS) were determined in dried blot spots (DBS, n = 7) and urine samples (n = 5) of horses with AM (n = 7) at disease presentation and in longitudinal samples from 3/4 survivors and compared to DBS (n = 16) and urine samples (n = 7) from control horses using the Wilcoxon test. Results: All short- (C2-C5) and medium-chain (C6-C12) AC in blood differed significantly (p < 0.008) between horses with AM and controls, except for C5:1 (p = 0.45) and C5OH + C4DC (p = 0.06). In AM survivors the AC concentrations decreased over time but were still partially elevated after 7 days. 14/62 (23%) of OA differed significantly between horses with AM and control horses. Concentrations of ethylmalonic acid, 2-hydroxyglutaric acid and the acylglycines (butyryl-, valeryl-, and hexanoylglycine) were highly elevated in the urine of all horses with AM at the day of disease presentation. In AM survivors, concentrations of those metabolites were initially lower and decreased during remission to approach normalization after 7 days. Conclusion: OA and AC profiling by specialized human medical laboratories was used to diagnose AM in horses. Elevation of specific metabolites were still evident several days after disease presentation, allowing diagnosis via analysis of samples from convalescent animals.Déborah MathisJörn Oliver SassClaudia GraubnerAngelika SchosterElsevierarticleAcquired multiple acyl-CoA dehydrogenase deficiencySeasonal pasture myopathyHypoglycin AMedicine (General)R5-920Biology (General)QH301-705.5ENMolecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100827- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Acquired multiple acyl-CoA dehydrogenase deficiency Seasonal pasture myopathy Hypoglycin A Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	Acquired multiple acyl-CoA dehydrogenase deficiency Seasonal pasture myopathy Hypoglycin A Medicine (General) R5-920 Biology (General) QH301-705.5 Déborah Mathis Jörn Oliver Sass Claudia Graubner Angelika Schoster Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
description	Background: Atypical myopathy (AM), an acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in horses, induce changes in mitochondrial metabolism. Only few veterinary laboratories offer diagnostic testing for this disease. Inborn and acquired MADD exist in humans, therefore determination of organic acids (OA) in urine and acylcarnitines (AC) in blood by assays available in medical laboratories can serve as AM diagnostics. The evolution of OA and AC profiles in surviving horses is unreported. Methods: AC profiles using electrospray ionization tandem mass spectrometry (ESI-MS/MS) and OA in urine using gas chromatography mass spectrometry (GC–MS) were determined in dried blot spots (DBS, n = 7) and urine samples (n = 5) of horses with AM (n = 7) at disease presentation and in longitudinal samples from 3/4 survivors and compared to DBS (n = 16) and urine samples (n = 7) from control horses using the Wilcoxon test. Results: All short- (C2-C5) and medium-chain (C6-C12) AC in blood differed significantly (p < 0.008) between horses with AM and controls, except for C5:1 (p = 0.45) and C5OH + C4DC (p = 0.06). In AM survivors the AC concentrations decreased over time but were still partially elevated after 7 days. 14/62 (23%) of OA differed significantly between horses with AM and control horses. Concentrations of ethylmalonic acid, 2-hydroxyglutaric acid and the acylglycines (butyryl-, valeryl-, and hexanoylglycine) were highly elevated in the urine of all horses with AM at the day of disease presentation. In AM survivors, concentrations of those metabolites were initially lower and decreased during remission to approach normalization after 7 days. Conclusion: OA and AC profiling by specialized human medical laboratories was used to diagnose AM in horses. Elevation of specific metabolites were still evident several days after disease presentation, allowing diagnosis via analysis of samples from convalescent animals.
format	article
author	Déborah Mathis Jörn Oliver Sass Claudia Graubner Angelika Schoster
author_facet	Déborah Mathis Jörn Oliver Sass Claudia Graubner Angelika Schoster
author_sort	Déborah Mathis
title	Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
title_short	Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
title_full	Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
title_fullStr	Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
title_full_unstemmed	Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
title_sort	diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/94ed41f643b04f99b3a8537fa780aea2
work_keys_str_mv	AT deborahmathis diagnosisofatypicalmyopathybasedonorganicacidandacylcarnitineprofilesandevolutionofbiomarkersinsurvivinghorses AT jornoliversass diagnosisofatypicalmyopathybasedonorganicacidandacylcarnitineprofilesandevolutionofbiomarkersinsurvivinghorses AT claudiagraubner diagnosisofatypicalmyopathybasedonorganicacidandacylcarnitineprofilesandevolutionofbiomarkersinsurvivinghorses AT angelikaschoster diagnosisofatypicalmyopathybasedonorganicacidandacylcarnitineprofilesandevolutionofbiomarkersinsurvivinghorses
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Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses

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