USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Carnitine Acyltransferase-2 Deficiency
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- autosomal recessive
- late onset
- muscle aches, weakness
- rhabdomyolysis, myoglobinuria (red urine)
- episode provoked by prolonged exercise
- symptoms may be exacerbated by high-fat diet
- muscle biopsy shows elevated muscle triglyceride detected as lipid droplets in cytoplasm
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