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