title: Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.
abstract: The results of a medium-chain triglyceride loading test in a patient with severe carnitine-acylcarnitine translocase deficiency clearly demonstrated impaired in vivo utilization of medium-chain triglycerides. The loading test was performed at the ages of 7 and 36 months. The diet was adjusted accordingly. The clinical course has been favourable and the child is now in very good condition at age 4 years. We conclude that the utilization of medium-chain triglycerides is only partial in carnitine-acylcarnitine translocase deficiency and cannot reasonably be considered an optimal source of energy for these patients. Careful adjustment of dietetic treatment may help to improve prognosis.
authors.affiliation: Laboratorio Analisi Cliniche, Istituti Clinici di Perfezionamento, Milan, Italy. Rossella.Parini@unimi.it
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: F
authors.initials: F
authors.lastname: Invernizzi
authors.forename: F
authors.initials: F
authors.lastname: Menni
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
authors.forename: D
authors.initials: D
authors.lastname: Melotti
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: S
authors.initials: S
authors.lastname: Salera
authors.forename: C
authors.initials: C
authors.lastname: Tosetto
authors.forename: F
authors.initials: F
authors.lastname: Taroni
mesh_terms: D020155:3-Hydroxybutyric Acid / Q000097:blood; D001786:Blood Glucose / Q000378:metabolism; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D002478:Cells, Cultured; D004032:Diet; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010084:Oxidation-Reduction; D019308:Palmitic Acid / Q000378:metabolism; D011379:Prognosis; D014280:Triglycerides / Q000378:metabolism
chemical_list: D001786:Blood Glucose; D005230:Fatty Acids, Nonesterified; D014280:Triglycerides; D019308:Palmitic Acid; D002333:Carnitine Acyltransferases; D020155:3-Hydroxybutyric Acid