Carnitine palmityl transferase deficiency

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Abstract
A 51-year-old man presented with acute respiratory failure and myoglobinuria precipitated by an infection. Carnitine palmityltransferase (CPT) deficiency was documented in muscle, leukocytes, and liver. “he enzyme defect in liver, previously suspected and now documented, explained the decreased production of ketone bodies during fasting observed in this patient as well as others with muscle CFT deficiency. Decreased utilization of long-chain fatty acids and decreased availability of ketone bodies can deprive the muscle of crucial sources of energy and, in certain conditions, may precipitate myoglobinuria.