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[Metabolic myopathies].

Óscar Papazian1, Rafael Rivas-Chacón

  • 1Miami Children's Hospital, Miami, EE.UU.

Revista De Neurologia
|July 31, 2013
PubMed
Summary
This summary is machine-generated.

Metabolic myopathies in children and adolescents cause muscle pain and weakness due to energy deficits. Differentiating carbohydrate vs. lipid metabolism disorders aids diagnosis and management, improving prognosis.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Context:

  • Metabolic myopathies present with episodic muscle symptoms like myalgias, cramps, and rigidity.
  • These conditions stem from inherited enzymatic deficiencies affecting carbohydrate or lipid metabolism.
  • Reduced muscle adenosine triphosphate (ATP) impairs muscle contraction, particularly during exercise.

Purpose:

  • To review metabolic myopathies presenting solely with crisis symptoms in pediatric patients.
  • To differentiate between carbohydrate and lipid metabolism disorders based on exercise triggers.
  • To guide presumptive clinical diagnosis and necessary testing for accurate identification.

Summary:

  • Carbohydrate metabolism disorders (e.g., GSD V, GSD VII) are triggered by brief, high-intensity exercise.
  • Lipid metabolism disorders (e.g., CPT II, VLCDH) are triggered by prolonged, low-intensity exercise.
  • Deficiencies in muscle phosphorylase, phosphofructokinase, and fatty acid oxidation enzymes are key examples.

Impact:

  • Effective differential diagnosis aids in targeted testing and management.
  • Treatment involves hydration, glucose, and urine alkalinization during crises.
  • Prevention strategies include avoiding triggering exercises and fasting, leading to a generally good prognosis.