title: Hypocarnitinemia in lysinuric protein intolerance.
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.
authors.affiliation: Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel. korman@hadassah.org.il
authors.forename: Stanley H
authors.initials: SH
authors.lastname: Korman
authors.forename: Annick
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
authors.forename: Alisa
authors.initials: A
authors.lastname: Gutman
mesh_terms: D020157:Amino Acid Transport Disorders, Inborn / Q000378:metabolism*; D002331:Carnitine / Q000008:administration & dosage / Q000096:biosynthesis / Q000172:deficiency*; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008239:Lysine / Q000652:urine*; D008297:Male
chemical_list: D008239:Lysine; D002331:Carnitine