Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

<p<Abstract</p< <p<Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. M...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Lovera Cristina [verfasserIn] Porta Francesco [verfasserIn] Caciotti Anna [verfasserIn] Catarzi Serena [verfasserIn] Cassanello Michela [verfasserIn] Caruso Ubaldo [verfasserIn] Gallina Maria [verfasserIn] Morrone Amelia [verfasserIn] Spada Marco [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2012

Schlagwörter:	Medium chain acyl CoA dehydrogenase deficiency Sudden unexpected deaths in Infancy Sudden infant death syndrome Fatty acid oxidation disorders

Übergeordnetes Werk:	In: Italian Journal of Pediatrics - BMC, 2004, 38(2012), 1, p 59
Übergeordnetes Werk:	volume:38 ; year:2012 ; number:1, p 59

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.1186/1824-7288-38-59

Katalog-ID:	DOAJ038382032

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allfieldsGer	10.1186/1824-7288-38-59 doi (DE-627)DOAJ038382032 (DE-599)DOAJ0b458649f4f44b4489d31abeb9408b56 DE-627 ger DE-627 rakwb eng RJ1-570 Lovera Cristina verfasserin aut Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23) mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.</p< Medium chain acyl CoA dehydrogenase deficiency Sudden unexpected deaths in Infancy Sudden infant death syndrome Fatty acid oxidation disorders Pediatrics Porta Francesco verfasserin aut Caciotti Anna verfasserin aut Catarzi Serena verfasserin aut Cassanello Michela verfasserin aut Caruso Ubaldo verfasserin aut Gallina Maria verfasserin aut Morrone Amelia verfasserin aut Spada Marco verfasserin aut In Italian Journal of Pediatrics BMC, 2004 38(2012), 1, p 59 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:38 year:2012 number:1, p 59 https://doi.org/10.1186/1824-7288-38-59 kostenfrei https://doaj.org/article/0b458649f4f44b4489d31abeb9408b56 kostenfrei http://www.ijponline.net/content/38/1/59 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 38 2012 1, p 59
allfieldsSound	10.1186/1824-7288-38-59 doi (DE-627)DOAJ038382032 (DE-599)DOAJ0b458649f4f44b4489d31abeb9408b56 DE-627 ger DE-627 rakwb eng RJ1-570 Lovera Cristina verfasserin aut Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23) mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.</p< Medium chain acyl CoA dehydrogenase deficiency Sudden unexpected deaths in Infancy Sudden infant death syndrome Fatty acid oxidation disorders Pediatrics Porta Francesco verfasserin aut Caciotti Anna verfasserin aut Catarzi Serena verfasserin aut Cassanello Michela verfasserin aut Caruso Ubaldo verfasserin aut Gallina Maria verfasserin aut Morrone Amelia verfasserin aut Spada Marco verfasserin aut In Italian Journal of Pediatrics BMC, 2004 38(2012), 1, p 59 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:38 year:2012 number:1, p 59 https://doi.org/10.1186/1824-7288-38-59 kostenfrei https://doaj.org/article/0b458649f4f44b4489d31abeb9408b56 kostenfrei http://www.ijponline.net/content/38/1/59 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 38 2012 1, p 59
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source	In Italian Journal of Pediatrics 38(2012), 1, p 59 volume:38 year:2012 number:1, p 59
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callnumber-first	R - Medicine
author	Lovera Cristina
spellingShingle	Lovera Cristina misc RJ1-570 misc Medium chain acyl CoA dehydrogenase deficiency misc Sudden unexpected deaths in Infancy misc Sudden infant death syndrome misc Fatty acid oxidation disorders misc Pediatrics Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
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topic_title	RJ1-570 Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype Medium chain acyl CoA dehydrogenase deficiency Sudden unexpected deaths in Infancy Sudden infant death syndrome Fatty acid oxidation disorders
topic	misc RJ1-570 misc Medium chain acyl CoA dehydrogenase deficiency misc Sudden unexpected deaths in Infancy misc Sudden infant death syndrome misc Fatty acid oxidation disorders misc Pediatrics
topic_unstemmed	misc RJ1-570 misc Medium chain acyl CoA dehydrogenase deficiency misc Sudden unexpected deaths in Infancy misc Sudden infant death syndrome misc Fatty acid oxidation disorders misc Pediatrics
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title	Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
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title_full	Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
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title_sort	sudden unexpected infant death (sudi) in a newborn due to medium chain acyl coa dehydrogenase (mcad) deficiency with an unusual severe genotype
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title_auth	Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
abstract	<p<Abstract</p< <p<Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23) mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.</p<
abstractGer	<p<Abstract</p< <p<Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23) mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.</p<
abstract_unstemmed	<p<Abstract</p< <p<Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23) mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.</p<
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title_short	Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
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Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

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