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Overview of Protein Metabolism01:21

Overview of Protein Metabolism

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Skeletal Muscle Relaxants: Adverse Effects

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Updated: Jun 25, 2026

Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

[Rhabdomyolysis due to muscle enzyme deficiencies].

R Toledo Rojas1, V López Jiménez, G Martín Reyes

  • 1Servicio de Nefrología, Hospital Regional Universitario Carlos Haya, Málaga, Spain. rtoledorojas@yahoo.es

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia
|February 26, 2009
PubMed
Summary

Rhabdomyolysis, muscle injury with circulating contents, can cause acute renal failure. This study highlights rare metabolic myopathies, carnitine palmitoyltransferase and myophosphorylase deficiencies, as causes of this serious condition.

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Area of Science:

  • Biochemistry
  • Nephrology
  • Neurology

Background:

  • Rhabdomyolysis is skeletal muscle injury releasing intracellular contents, often leading to acute renal failure.
  • Trauma, compression, and extreme exertion are common causes, but diagnosis can be challenging when the etiology is not apparent.
  • Investigating medications, infections, electrolyte imbalances, and inherited enzyme deficiencies is crucial for identifying less common causes.

Observation:

  • This report details two cases of acute renal failure secondary to rhabdomyolysis.
  • The underlying causes were identified as specific metabolic myopathies: carnitine palmitoyltransferase deficiency and myophosphorylase deficiency.
  • The clinical presentations and disease progression of these patients are described.

Findings:

  • Inherited metabolic myopathies, specifically carnitine palmitoyltransferase deficiency and myophosphorylase deficiency, can precipitate rhabdomyolysis and subsequent acute renal failure.
  • These enzyme deficiencies impair muscle energy utilization, leading to muscle breakdown under certain conditions.
  • Early clinical suspicion and targeted investigation are vital for diagnosing these rare but severe causes of rhabdomyolysis.

Implications:

  • Recognizing metabolic myopathies as potential triggers for rhabdomyolysis is essential for timely diagnosis and management.
  • Understanding these genetic conditions can improve patient outcomes by preventing further muscle injury and renal complications.
  • This case series underscores the importance of a comprehensive diagnostic approach in rhabdomyolysis, particularly when common etiologies are absent.