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Related Experiment Video

Updated: May 24, 2026

Quantification of Coenzyme A in Cells and Tissues

Quantification of Coenzyme A in Cells and Tissues

Published on: September 27, 2019

Carnitine deficiency.

T Răşanu¹, Mihaela Mehedinţi-Hâncu, Marilena Alexianu

¹Department of Infantile Neuropsychiatry, City Hospital Medgidia, Romania. tudorrasanu2003@yahoo.com

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie

|March 8, 2012

Summary

This summary is machine-generated.

Carnitine deficiency can cause muscle weakness and fatigue. Muscle biopsy is crucial for diagnosing this metabolic disorder, revealing lipid accumulation and mitochondrial changes in muscle fibers.

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Area of Science:

Biochemistry
Neurology
Genetics

Background:

Carnitine deficiency is a rare metabolic disorder affecting energy production.
It can manifest with symptoms like muscle weakness, fatigue, and exercise intolerance.
Early diagnosis is essential for effective management and preventing complications.

Observation:

A 12-year-old female presented with progressive fatigability and exertional myalgias.
Physical examination revealed short stature, proximal muscle weakness, and mild hepatomegaly.
Laboratory tests showed decreased urine ketones and elevated muscle enzymes.

Findings:

Deltoid muscle biopsy demonstrated lipid accumulation and mitochondrial proliferation, particularly in type I muscle fibers.
Histochemical stains revealed abnormal muscle architecture, consistent with neutral fat droplets.
Electron microscopy confirmed the presence of non-membrane-bounded lipid droplets and subsarcolemmal mitochondrial accumulation.

Implications:

Muscle biopsy plays a vital role in diagnosing carnitine deficiency.
This case highlights the importance of considering metabolic myopathies in the differential diagnosis of unexplained muscle weakness.