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Hypocarnitinemia in lysinuric protein intolerance. 2002

Stanley H Korman, and Annick Raas-Rothschild, and Orly Elpeleg, and Alisa Gutman
Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel. korman@hadassah.org.il

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008239 Lysine An essential amino acid. It is often added to animal feed. Enisyl,L-Lysine,Lysine Acetate,Lysine Hydrochloride,Acetate, Lysine,L Lysine
D008297 Male Males
D002331 Carnitine A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism. Bicarnesine,L-Carnitine,Levocarnitine,Vitamin BT,L Carnitine
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D020157 Amino Acid Transport Disorders, Inborn Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92) Transport Disorders, Amino Acid, Inborn,Inborn Transport Disorders, Amino Acid,Inherited Amino Acid Transport Disorders

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