LPIN-1 deficiency is an inherited metabolic disease caused by mutations in the gene encoding the enzyme lipin-1 (LPIN1). One of its functions is to regulate expression of enzymes in the fatty acid oxidation (FAO). LPIN-1 deficiency is known to cause rhabdomyolysis in early childhood. Very few adults with LPIN-1 deficiency have been described and little is known about the affection in skeletal muscle. We studied a 46-year-old man with LPIN-1 deficiency and 6 healthy controls. He suffered from exercise-induced cramps, pain, fatigue and rhabdomyolysis.

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