Hypoglycemia in patients with congenital muscle disease
Abstract Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease (CMD). Methods Pediatric patients en...
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| Format: | Article |
| Language: | English |
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BMC
2020-02-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-020-1909-5 |
| _version_ | 1818676685334118400 |
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| author | Leslie H. Hayes Pomi Yun Payam Mohassel Gina Norato Sandra Donkervoort Meganne E. Leach Rachel Alvarez Anne Rutkowski Natalie D. Shaw A. Reghan Foley Carsten G. Bönnemann |
| author_facet | Leslie H. Hayes Pomi Yun Payam Mohassel Gina Norato Sandra Donkervoort Meganne E. Leach Rachel Alvarez Anne Rutkowski Natalie D. Shaw A. Reghan Foley Carsten G. Bönnemann |
| author_sort | Leslie H. Hayes |
| collection | DOAJ |
| description | Abstract Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease (CMD). Methods Pediatric patients enrolled in the CMD International Registry (CMDIR) with a history of hypoglycemia were included in this retrospective review. Hypoglycemic episodes and associated clinical and biochemical characteristics were characterized. Results Ten patients with CMD (5 with LAMA2-related muscular dystrophy) reported at least one episode of hypoglycemia beginning at an average age of 3.5 years. Predominant symptoms included altered mental status and nausea/vomiting, and laboratory studies demonstrated metabolic acidosis and ketonuria, consistent with ketotic hypoglycemia. Conclusion Patients with CMD may have an increased risk of hypoglycemia during fasting, illness, or stress due to their relatively low muscle mass and hence, paucity of gluconeogenic substrate. Clinicians should therefore maintain a high index of suspicion for hypoglycemia in this high-risk patient population and caregivers should routinely be trained to recognize and treat hypoglycemia. |
| first_indexed | 2024-12-17T08:47:24Z |
| format | Article |
| id | doaj.art-cc66bc3eb49d4cbe95e9f7527450d77a |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-12-17T08:47:24Z |
| publishDate | 2020-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-cc66bc3eb49d4cbe95e9f7527450d77a2022-12-21T21:56:10ZengBMCBMC Pediatrics1471-24312020-02-012011710.1186/s12887-020-1909-5Hypoglycemia in patients with congenital muscle diseaseLeslie H. Hayes0Pomi Yun1Payam Mohassel2Gina Norato3Sandra Donkervoort4Meganne E. Leach5Rachel Alvarez6Anne Rutkowski7Natalie D. Shaw8A. Reghan Foley9Carsten G. Bönnemann10Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthOffice of Biostatistics, National Institute of Neurological Disorders and Stroke, National Institutes of HealthNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthCongenital Muscle Disease International RegistryCongenital Muscle Disease International RegistryPediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health SciencesNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthAbstract Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease (CMD). Methods Pediatric patients enrolled in the CMD International Registry (CMDIR) with a history of hypoglycemia were included in this retrospective review. Hypoglycemic episodes and associated clinical and biochemical characteristics were characterized. Results Ten patients with CMD (5 with LAMA2-related muscular dystrophy) reported at least one episode of hypoglycemia beginning at an average age of 3.5 years. Predominant symptoms included altered mental status and nausea/vomiting, and laboratory studies demonstrated metabolic acidosis and ketonuria, consistent with ketotic hypoglycemia. Conclusion Patients with CMD may have an increased risk of hypoglycemia during fasting, illness, or stress due to their relatively low muscle mass and hence, paucity of gluconeogenic substrate. Clinicians should therefore maintain a high index of suspicion for hypoglycemia in this high-risk patient population and caregivers should routinely be trained to recognize and treat hypoglycemia.https://doi.org/10.1186/s12887-020-1909-5HypoglycemiaKetotic hypoglycemiaCongenital muscular dystrophiesNeuromuscular |
| spellingShingle | Leslie H. Hayes Pomi Yun Payam Mohassel Gina Norato Sandra Donkervoort Meganne E. Leach Rachel Alvarez Anne Rutkowski Natalie D. Shaw A. Reghan Foley Carsten G. Bönnemann Hypoglycemia in patients with congenital muscle disease BMC Pediatrics Hypoglycemia Ketotic hypoglycemia Congenital muscular dystrophies Neuromuscular |
| title | Hypoglycemia in patients with congenital muscle disease |
| title_full | Hypoglycemia in patients with congenital muscle disease |
| title_fullStr | Hypoglycemia in patients with congenital muscle disease |
| title_full_unstemmed | Hypoglycemia in patients with congenital muscle disease |
| title_short | Hypoglycemia in patients with congenital muscle disease |
| title_sort | hypoglycemia in patients with congenital muscle disease |
| topic | Hypoglycemia Ketotic hypoglycemia Congenital muscular dystrophies Neuromuscular |
| url | https://doi.org/10.1186/s12887-020-1909-5 |
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