title: Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance.
abstract: The aim of the study was to investigate the prevalence and mechanisms of development of carnitine deficiency in patients with lysinuric protein intolerance (LPI). In our cohort of 37 Finnish patients with LPI, 8 (8-52 years of age) have been diagnosed with hypocarnitinemia. Their free and total serum carnitine levels, acyl carnitine profiles, renal function, diet, and medication were compared with the data from 8 age- and sex-matched patients with LPI not treated with carnitine supplementation. In patients with LPI, hypocarnitinemia was strongly associated with female sex, renal insufficiency, and the use of ammonia-scavenging drugs. Of the 8 hypocarnitinemic patients, 3 complained of muscle weakness, and their symptoms disappeared during carnitine supplementation. Oral lysine supplementation did not correct hypocarnitinemia in our patients. The patients with LPI are at considerable risk for carnitine deficiency. Supplementation of hypocarnitinemic LPI patients with oral L-carnitine improved serum total carnitine values, but the ratio of free and total carnitine remained subnormal in all supplemented patients except one. Furthermore, decreased ratio of free and total serum carnitine was common even in LPI patients with normal total serum carnitine concentration.
authors.affiliation: Department of Pediatrics, University of Turku, 20520 Turku, Finland. lamaer@utu.fi <lamaer@utu.fi>
authors.forename: Laura M
authors.initials: LM
authors.lastname: Tanner
authors.forename: Kirsti
authors.initials: K
authors.lastname: Näntö-Salonen
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Rashed
authors.forename: Soile
authors.initials: S
authors.lastname: Kotilainen
authors.forename: Maija
authors.initials: M
authors.lastname: Aalto
authors.forename: Jaana
authors.initials: J
authors.lastname: Venetoklis
authors.forename: Harri
authors.initials: H
authors.lastname: Niinikoski
authors.forename: Kirsi
authors.initials: K
authors.lastname: Huoponen
authors.forename: Olli
authors.initials: O
authors.lastname: Simell
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism* / Q000628:therapy; D002331:Carnitine / Q000172:deficiency*; D002648:Child; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D008239:Lysine / Q000652:urine*; D008297:Male; D008875:Middle Aged
chemical_list: D008239:Lysine; D002331:Carnitine