Inborn Errors of Metabolism
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who h...
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| Format: | Article |
| Language: | English |
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Association of American Medical Colleges
2009-05-01
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| Series: | MedEdPORTAL |
| Subjects: | |
| Online Access: | http://www.mededportal.org/doi/10.15766/mep_2374-8265.726 |
| _version_ | 1819364702040358912 |
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| author | Erich Maul |
| author_facet | Erich Maul |
| author_sort | Erich Maul |
| collection | DOAJ |
| description | Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder. This talk was originally given to third-year medical students and residents on the pediatric wards after the presentation of a child with medium chain acyl-CoA dehydrogenase deficiency. The basic, broad concepts the talk defines were well received by the housestaff and were helpful in framing their future evaluations of suspected metabolic disease. The talk is published here as a PowerPoint file with an attached script that a lecturer can print out in order to have notes for presentation. There is no pretest or posttest. The main focus of the talk is to help pediatric care providers gain a basic framework for when and how to evaluate a suspected inborn error of metabolism in a child. The talk features very little detail about specific inborn errors, which are beyond the scope of the presentation. |
| first_indexed | 2024-12-24T23:03:08Z |
| format | Article |
| id | doaj.art-cbbe323b3c6f45ee83227f3716254768 |
| institution | Directory Open Access Journal |
| issn | 2374-8265 |
| language | English |
| last_indexed | 2024-12-24T23:03:08Z |
| publishDate | 2009-05-01 |
| publisher | Association of American Medical Colleges |
| record_format | Article |
| series | MedEdPORTAL |
| spelling | doaj.art-cbbe323b3c6f45ee83227f37162547682022-12-21T16:35:05ZengAssociation of American Medical CollegesMedEdPORTAL2374-82652009-05-01510.15766/mep_2374-8265.726Inborn Errors of MetabolismErich Maul01 University of Kentucky College of MedicineAbstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder. This talk was originally given to third-year medical students and residents on the pediatric wards after the presentation of a child with medium chain acyl-CoA dehydrogenase deficiency. The basic, broad concepts the talk defines were well received by the housestaff and were helpful in framing their future evaluations of suspected metabolic disease. The talk is published here as a PowerPoint file with an attached script that a lecturer can print out in order to have notes for presentation. There is no pretest or posttest. The main focus of the talk is to help pediatric care providers gain a basic framework for when and how to evaluate a suspected inborn error of metabolism in a child. The talk features very little detail about specific inborn errors, which are beyond the scope of the presentation.http://www.mededportal.org/doi/10.15766/mep_2374-8265.726InfantNewbornInborn Error of MetabolismMetabolic DiseasesScreening TestsEncephalopathy |
| spellingShingle | Erich Maul Inborn Errors of Metabolism MedEdPORTAL Infant Newborn Inborn Error of Metabolism Metabolic Diseases Screening Tests Encephalopathy |
| title | Inborn Errors of Metabolism |
| title_full | Inborn Errors of Metabolism |
| title_fullStr | Inborn Errors of Metabolism |
| title_full_unstemmed | Inborn Errors of Metabolism |
| title_short | Inborn Errors of Metabolism |
| title_sort | inborn errors of metabolism |
| topic | Infant Newborn Inborn Error of Metabolism Metabolic Diseases Screening Tests Encephalopathy |
| url | http://www.mededportal.org/doi/10.15766/mep_2374-8265.726 |
| work_keys_str_mv | AT erichmaul inbornerrorsofmetabolism |