title: Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
abstract: Carnitine palmitoyltransferase 2 (CPT2) deficiency is one of the most common mitochondrial beta-oxidation defects. A female patient with an infantile form of CPT2 deficiency first presented as having a Reye-like syndrome with hypoglycemic convulsions. Oral L-carnitine supplementation was administered since serum free carnitine level was very low (less than 10 micromol/L), indicating secondary carnitine deficiency. Her serum and urinary acylcarnitine profiles were analyzed successively to evaluate time-course effects of L-carnitine supplementation. After the first two days of L-carnitine supplementation, the serum level of free carnitine was elevated; however, the serum levels of acylcarnitines and the urinary excretion of both free carnitine and acylcarnitines remained low. A peak of the serum free carnitine level was detected on day 5, followed by a peak of acetylcarnitine on day 7, and peaks of long-chain acylcarnitines, such as C16, C18, C18:1 and C18:2 carnitines, on day 9. Thereafter free carnitine became predominant again. These peaks of the serum levels corresponded to urinary excretion peaks of free carnitine, acetylcarnitine, and medium-chain dicarboxylic carnitines, respectively. It took several days for oral L-carnitine administration to increase the serum carnitine levels, probably because the intracellular stores were depleted. Thereafter, the administration increased the excretion of abnormal acylcarnitines, some of which had accumulated within the tissues. The excretion of medium-chain dicarboxylic carnitines dramatically decreased on day 13, suggesting improvement of tissue acylcarnitine accumulation. These time-course changes in blood and urinary acylcarnitine levels after L-carnitine supplementation support the effectiveness of L-carnitine supplementation to CPT2-deficient patients.
authors.affiliation: Department of Pediatrics, Gifu University Graduate School of Medicine.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Hori
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Hironori
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Takahide
authors.initials: T
authors.lastname: Teramoto
authors.forename: Masaki
authors.initials: M
authors.lastname: Takayanagi
authors.forename: Yuki
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: Tetsuhiko
authors.initials: T
authors.lastname: Yasuno
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000108:Acetylcarnitine / Q000097:blood / Q000172:deficiency / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000652:urine; D000596:Amino Acids / Q000097:blood / Q000172:deficiency / Q000652:urine; D001774:Blood Chemical Analysis; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood / Q000172:deficiency* / Q000652:urine*; D002334:Carnitine O-Palmitoyltransferase / Q000097:blood / Q000172:deficiency*; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000652:urine; D012202:Reye Syndrome / Q000097:blood / Q000652:urine; D013997:Time Factors; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000097:blood / Q000652:urine
chemical_list: D000596:Amino Acids; C116917:acylcarnitine; D014803:Vitamin B Complex; D000108:Acetylcarnitine; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine