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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2012-10-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://www.ijponline.net/content/38/1/59 |
| _version_ | 1818142143282151424 |
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| author | Lovera Cristina Porta Francesco Caciotti Anna Catarzi Serena Cassanello Michela Caruso Ubaldo Gallina Maria Morrone Amelia Spada Marco |
| author_facet | Lovera Cristina Porta Francesco Caciotti Anna Catarzi Serena Cassanello Michela Caruso Ubaldo Gallina Maria Morrone Amelia Spada Marco |
| author_sort | Lovera Cristina |
| collection | DOAJ |
| description | <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> |
| first_indexed | 2024-12-11T11:11:05Z |
| format | Article |
| id | doaj.art-0b458649f4f44b4489d31abeb9408b56 |
| institution | Directory Open Access Journal |
| issn | 1720-8424 1824-7288 |
| language | English |
| last_indexed | 2024-12-11T11:11:05Z |
| publishDate | 2012-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-0b458649f4f44b4489d31abeb9408b562022-12-22T01:09:32ZengBMCItalian Journal of Pediatrics1720-84241824-72882012-10-013815910.1186/1824-7288-38-59Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotypeLovera CristinaPorta FrancescoCaciotti AnnaCatarzi SerenaCassanello MichelaCaruso UbaldoGallina MariaMorrone AmeliaSpada Marco<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>http://www.ijponline.net/content/38/1/59Medium chain acyl CoA dehydrogenase deficiencySudden unexpected deaths in InfancySudden infant death syndromeFatty acid oxidation disorders |
| spellingShingle | Lovera Cristina Porta Francesco Caciotti Anna Catarzi Serena Cassanello Michela Caruso Ubaldo Gallina Maria Morrone Amelia Spada Marco Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype Italian Journal of Pediatrics Medium chain acyl CoA dehydrogenase deficiency Sudden unexpected deaths in Infancy Sudden infant death syndrome Fatty acid oxidation disorders |
| title | Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype |
| title_full | Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype |
| title_fullStr | Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype |
| title_full_unstemmed | Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype |
| title_short | Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype |
| title_sort | sudden unexpected infant death sudi in a newborn due to medium chain acyl coa dehydrogenase mcad deficiency with an unusual severe genotype |
| topic | Medium chain acyl CoA dehydrogenase deficiency Sudden unexpected deaths in Infancy Sudden infant death syndrome Fatty acid oxidation disorders |
| url | http://www.ijponline.net/content/38/1/59 |
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