Hypocarnitinemia in lysinuric protein intolerance.
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.
Korman
Stanley H
SH
Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel. korman@hadassah.org.il
Raas-Rothschild
Annick
A
Elpeleg
Orly
O
Gutman
Alisa
A
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
D008239:Lysine; D002331:Carnitine