Systemic primary carnitine deficiency with hypoglycemic encephalopathy
Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in f...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2016-12-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-21-226.pdf |
| _version_ | 1831736876993609728 |
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| author | Jae Sung Jun Eun Joo Lee Hyung Doo Park Hae Sook Kim |
| author_facet | Jae Sung Jun Eun Joo Lee Hyung Doo Park Hae Sook Kim |
| author_sort | Jae Sung Jun |
| collection | DOAJ |
| description | Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia. |
| first_indexed | 2024-12-21T12:53:03Z |
| format | Article |
| id | doaj.art-4d8b969287a642eba8b008ef4fa44891 |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-12-21T12:53:03Z |
| publishDate | 2016-12-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-4d8b969287a642eba8b008ef4fa448912022-12-21T19:03:26ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922016-12-0121422622910.6065/apem.2016.21.4.226633Systemic primary carnitine deficiency with hypoglycemic encephalopathyJae Sung Jun0Eun Joo Lee1Hyung Doo Park2Hae Sook Kim3Department of Pediatrics, Fatima Hospital, Daegu, Korea.Department of Pediatrics, Daegu Catholic University Hospital, Daegu Catholic University College of Medicine, Daegu, Korea.Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul, Korea.Department of Pediatrics, Fatima Hospital, Daegu, Korea.Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia.http://e-apem.org/upload/pdf/apem-21-226.pdfHypoglycemiaEncephalopathySystemic carnitine deficiency |
| spellingShingle | Jae Sung Jun Eun Joo Lee Hyung Doo Park Hae Sook Kim Systemic primary carnitine deficiency with hypoglycemic encephalopathy Annals of Pediatric Endocrinology & Metabolism Hypoglycemia Encephalopathy Systemic carnitine deficiency |
| title | Systemic primary carnitine deficiency with hypoglycemic encephalopathy |
| title_full | Systemic primary carnitine deficiency with hypoglycemic encephalopathy |
| title_fullStr | Systemic primary carnitine deficiency with hypoglycemic encephalopathy |
| title_full_unstemmed | Systemic primary carnitine deficiency with hypoglycemic encephalopathy |
| title_short | Systemic primary carnitine deficiency with hypoglycemic encephalopathy |
| title_sort | systemic primary carnitine deficiency with hypoglycemic encephalopathy |
| topic | Hypoglycemia Encephalopathy Systemic carnitine deficiency |
| url | http://e-apem.org/upload/pdf/apem-21-226.pdf |
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