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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.

An 18-year-old female patient had a history of recurrent pancreatitis after prolonged periods of exercise coupled with a high-fat diet at the ages of 12 and 15 years. After the onset of recurrent myoglobinuria when she was 16 years old, deficiency of carnitine palmitoyltransferase type II (32% residual activity) was diagnosed on the basis of cultured skin fibroblasts. We conclude that deficiency of carnitine palmitoyltransferase type II may be a cause of pancreatitis and should be considered in the differential diagnosis, even in the absence of overt myoglobinuria.[1]

References

  1. Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. Tein, I., Christodoulou, J., Donner, E., McInnes, R.R. J. Pediatr. (1994) [Pubmed]
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