Related Experiment Video

Updated: Dec 29, 2025

Measurement of Insulin- and Contraction-Stimulated Glucose Uptake in Isolated and Incubated Mature Skeletal Muscle from Mice
08:01

Measurement of Insulin- and Contraction-Stimulated Glucose Uptake in Isolated and Incubated Mature Skeletal Muscle from Mice

Published on: May 16, 2021

6.4K

Hypoglycemia in patients with congenital muscle disease

Leslie H Hayes1,2, Pomi Yun1, Payam Mohassel1

  • 1Neuromuscular 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.

BMC Pediatrics
|February 8, 2020
PubMed

Insights

Children with congenital muscle disease (CMD) may experience hypoglycemia, particularly during illness or stress. Early recognition and treatment are crucial due to low muscle mass impacting glucose regulation.

Area of Science:

  • Pediatric Endocrinology
  • Neuromuscular Disorders
  • Metabolic Diseases

Background:

  • Limited research exists on hypoglycemia in children with congenital muscle disease (CMD).
  • Previous studies focused on hypoglycemia in broader neuromuscular disease categories, not specifically CMD.
  • This study addresses the gap in understanding hypoglycemia occurrence in pediatric CMD patients.

Purpose of the Study:

  • To investigate the incidence and characteristics of hypoglycemia in children diagnosed with congenital muscle disease (CMD).
  • To identify clinical and biochemical features associated with hypoglycemic episodes in this population.
  • To raise awareness among clinicians and caregivers regarding the risk of hypoglycemia in pediatric CMD.

Main Methods:

  • Retrospective review of pediatric patients within the CMD International Registry (CMDIR).
  • Inclusion criteria: patients with a documented history of hypoglycemia.
  • Characterization of hypoglycemic episodes, clinical presentation, and biochemical data.

Main Results:

  • Ten patients with CMD experienced at least one hypoglycemic episode, with onset around 3.5 years of age.
  • Five patients had LAMA2-related muscular dystrophy.
  • Common symptoms included altered mental status, nausea, and vomiting; laboratory findings indicated ketotic hypoglycemia (metabolic acidosis, ketonuria).

Conclusions:

  • Children with CMD are at an increased risk for hypoglycemia, especially during periods of fasting, illness, or stress.
  • Reduced muscle mass in CMD patients may impair gluconeogenic substrate availability.
  • Clinicians and caregivers require heightened awareness and training for recognizing and managing hypoglycemia in this vulnerable group.
Abstract

Keywords:
Congenital muscular dystrophiesHypoglycemiaKetotic hypoglycemiaNeuromuscular

More Related Videos

Author Spotlight: Investigating the Blood Glucose Homeostasis in Murine Brain Using a Cost-Effective Hyperglycemic And Hypoglycemic Clamp Technique07:35

Author Spotlight: Investigating the Blood Glucose Homeostasis in Murine Brain Using a Cost-Effective Hyperglycemic And Hypoglycemic Clamp Technique

Published on: January 26, 2024

2.0K
Glucose Uptake Measurement and Response to Insulin Stimulation in In Vitro Cultured Human Primary Myotubes08:03

Glucose Uptake Measurement and Response to Insulin Stimulation in In Vitro Cultured Human Primary Myotubes

Published on: June 25, 2017

20.6K

Related Concept Videos

Hypoglycemia and Glucagon01:15

Hypoglycemia and Glucagon

Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
730
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
643
Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
4.7K
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
27.0K
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
4.2K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
1.6K