Acute Muscle Pain in an Adolescent Athlete

Area of Science:

• Biochemistry
• Genetics
• Sports Medicine

Background:

• Carnitine palmitoyltransferase type 2 deficiency (CPT2D) is a rare genetic disorder affecting fatty acid metabolism.
• It typically presents with muscle weakness, pain, and rhabdomyolysis, particularly after exertion.

Purpose of the Study:

• To report a case of CPT2D presenting with severe rhabdomyolysis and acute kidney injury in a young female athlete.
• To highlight the diagnostic challenges and management of this metabolic myopathy.

Main Methods:

• Clinical case presentation and detailed patient history.
• Physical examination, urinalysis, and laboratory enzyme assays on muscle biopsy.
• Treatment with extracorporeal hemodialysis.

Main Results:

• The patient presented with severe thigh pain, inability to walk, and brown urine post-exercise.
• Urinalysis showed blood, protein, and myoglobin; muscle biopsy revealed CPT2D.
• Hemodialysis for 3 weeks led to gradual renal function recovery.

Conclusions:

• CPT2D can manifest acutely in young athletes following strenuous activity.
• Early diagnosis through enzyme assays and appropriate supportive care, including dialysis, are crucial for managing CPT2D-related rhabdomyolysis and kidney injury.