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Carnitine palmitoyltransferase deficiency: an underdiagnosed condition?
1Nephrology and Hypertension Unit,E. Wolfson Medical Center, Holon, Israel.
American Journal of Nephrology
|January 1, 1996
Summary
Carnitine palmitoyltransferase deficiency can cause severe muscle breakdown and kidney failure, often triggered by exercise or illness. This metabolic disorder may be more common than previously thought.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Nephrology
Background:
- Carnitine palmitoyltransferase (CPT) deficiency is a rare inherited metabolic disorder.
- It affects fatty acid metabolism, crucial for energy production in muscles.
Observation:
- Two patients presented with acute muscle cramps, weakness, and red urine after exercise or infection.
- Both experienced similar, previously misinterpreted episodes.
- They developed acute kidney injury due to rhabdomyolysis and myoglobinuria.
Findings:
- Investigations revealed carnitine palmitoyltransferase deficiency in both patients.
- A sister of one patient with a similar history also had the deficiency.
- This deficiency underlies the non-traumatic rhabdomyolysis and subsequent renal failure.
Implications:
- Carnitine palmitoyltransferase deficiency is a significant cause of non-traumatic rhabdomyolysis and acute kidney injury.
- The condition may be underdiagnosed and should be considered in patients with unexplained red urine and renal failure.
- Increased awareness can lead to earlier diagnosis and management of this metabolic disorder.