Hypoglycemia in patients with congenital muscle disease

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

doi:10.1186/s12887-020-1909-5

Hypoglycemia in patients with congenital muscle disease

BMC Pediatr. 2020 Feb 6;20(1):57. doi: 10.1186/s12887-020-1909-5.

Authors

Leslie H Hayes^{1

2}, Pomi Yun¹, Payam Mohassel¹, Gina Norato³, Sandra Donkervoort¹, Meganne E Leach^{1

4}, Rachel Alvarez^{5

6}, Anne Rutkowski^{5

6

7}, Natalie D Shaw⁸, A Reghan Foley¹, Carsten G Bönnemann⁹

Affiliations

¹ Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 2B 39, MSC 1477, 10 Center Drive, Bethesda, MD, 20892, USA.
² Department of Neurology, Boston Children's Hospital, 300 Longwood Ave, Boston Children's Hospital, Fegan 11, Boston, MA, 02115, USA.
³ Office of Biostatistics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 2A 23, 10 Center Drive, Bethesda, MD, 20814, USA.
⁴ Division of Neurology, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR, 97239, USA.
⁵ Congenital Muscle Disease International Registry, Los Angeles, California, USA.
⁶ Cure CMD, 19401 S. Vermont Avenue, Suite J100, Torrance, Los Angeles, CA, 90502, USA.
⁷ Kaiser Southern California Permanente Medical Group, Los Angeles, California, USA.
⁸ Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences, Research Triangle Park, Durham, NC, 27709, USA.
⁹ Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 2B 39, MSC 1477, 10 Center Drive, Bethesda, MD, 20892, USA. [email protected].

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.

Keywords: Congenital muscular dystrophies; Hypoglycemia; Ketotic hypoglycemia; Neuromuscular.

Publication types

Research Support, N.I.H., Intramural

MeSH terms

Child
Child, Preschool
Fasting
Humans
Hypoglycemia* / complications
Hypoglycemia* / diagnosis
Muscles / physiopathology
Muscular Dystrophies* / complications
Retrospective Studies