Hypocarnitinemia in lysinuric protein intolerance.

Stanley H Korman,Annick Raas-Rothschild,Orly Elpeleg,Alisa Gutman

Molecular genetics and metabolism（2002）

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摘要

Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine.

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