Hypocarnitinemia in lysinuric protein intolerance |
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Authors: | Korman Stanley H Raas-Rothschild Annick Elpeleg Orly Gutman Alisa |
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Affiliation: | Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel. korman@hadassah.org.il |
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Abstract: | 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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