Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases

Mitochondrial fatty acid β-oxidation (FAO) contributes a large proportion to the body’s energy needs in fasting and in situations of metabolic stress. Most tissues use energy from fatty acids, particularly the heart, skeletal muscle and the liver. In the brain, ketone bodies formed from FAO in the l...

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Autores principales:	Pedro Ruiz-Sala, Luis Peña-Quintana
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	fatty acid β-oxidation diseases carnitine acylcarnitines newborn screening mass spectrometry acylglycines Medicine R
Acceso en línea:	https://doaj.org/article/ac275d1e1e2c4d4495473601c106678f
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spelling	oai:doaj.org-article:ac275d1e1e2c4d4495473601c106678f2021-11-11T17:31:07ZBiochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases10.3390/jcm102148552077-0383https://doaj.org/article/ac275d1e1e2c4d4495473601c106678f2021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/4855https://doaj.org/toc/2077-0383Mitochondrial fatty acid β-oxidation (FAO) contributes a large proportion to the body’s energy needs in fasting and in situations of metabolic stress. Most tissues use energy from fatty acids, particularly the heart, skeletal muscle and the liver. In the brain, ketone bodies formed from FAO in the liver are used as the main source of energy. The mitochondrial fatty acid oxidation disorders (FAODs), which include the carnitine system defects, constitute a group of diseases with several types and subtypes and with variable clinical spectrum and prognosis, from paucisymptomatic cases to more severe affectations, with a 5% rate of sudden death in childhood, and with fasting hypoketotic hypoglycemia frequently occurring. The implementation of newborn screening programs has resulted in new challenges in diagnosis, with the detection of new phenotypes as well as carriers and false positive cases. In this article, a review of the biochemical markers used for the diagnosis of FAODs is presented. The analysis of acylcarnitines by MS/MS contributes to improving the biochemical diagnosis, both in affected patients and in newborn screening, but acylglycines, organic acids, and other metabolites are also reported. Moreover, this review recommends caution, and outlines the differences in the interpretation of the biomarkers depending on age, clinical situation and types of samples or techniques.Pedro Ruiz-SalaLuis Peña-QuintanaMDPI AGarticlefatty acid β-oxidation diseasescarnitineacylcarnitinesnewborn screeningmass spectrometryacylglycinesMedicineRENJournal of Clinical Medicine, Vol 10, Iss 4855, p 4855 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	fatty acid β-oxidation diseases carnitine acylcarnitines newborn screening mass spectrometry acylglycines Medicine R
spellingShingle	fatty acid β-oxidation diseases carnitine acylcarnitines newborn screening mass spectrometry acylglycines Medicine R Pedro Ruiz-Sala Luis Peña-Quintana Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases
description	Mitochondrial fatty acid β-oxidation (FAO) contributes a large proportion to the body’s energy needs in fasting and in situations of metabolic stress. Most tissues use energy from fatty acids, particularly the heart, skeletal muscle and the liver. In the brain, ketone bodies formed from FAO in the liver are used as the main source of energy. The mitochondrial fatty acid oxidation disorders (FAODs), which include the carnitine system defects, constitute a group of diseases with several types and subtypes and with variable clinical spectrum and prognosis, from paucisymptomatic cases to more severe affectations, with a 5% rate of sudden death in childhood, and with fasting hypoketotic hypoglycemia frequently occurring. The implementation of newborn screening programs has resulted in new challenges in diagnosis, with the detection of new phenotypes as well as carriers and false positive cases. In this article, a review of the biochemical markers used for the diagnosis of FAODs is presented. The analysis of acylcarnitines by MS/MS contributes to improving the biochemical diagnosis, both in affected patients and in newborn screening, but acylglycines, organic acids, and other metabolites are also reported. Moreover, this review recommends caution, and outlines the differences in the interpretation of the biomarkers depending on age, clinical situation and types of samples or techniques.
format	article
author	Pedro Ruiz-Sala Luis Peña-Quintana
author_facet	Pedro Ruiz-Sala Luis Peña-Quintana
author_sort	Pedro Ruiz-Sala
title	Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases
title_short	Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases
title_full	Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases
title_fullStr	Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases
title_full_unstemmed	Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases
title_sort	biochemical markers for the diagnosis of mitochondrial fatty acid oxidation diseases
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/ac275d1e1e2c4d4495473601c106678f
work_keys_str_mv	AT pedroruizsala biochemicalmarkersforthediagnosisofmitochondrialfattyacidoxidationdiseases AT luispenaquintana biochemicalmarkersforthediagnosisofmitochondrialfattyacidoxidationdiseases
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Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases

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