USMLE (Fach) / Biochemistry - Genetics (Lektion)

Vorderseite 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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