Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.
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.
Parini
R
R
Laboratorio Analisi Cliniche, Istituti Clinici di Perfezionamento, Milan, Italy. Rossella.Parini@unimi.it
Invernizzi
F
F
Menni
F
F
Garavaglia
B
B
Melotti
D
D
Rimoldi
M
M
Salera
S
S
Tosetto
C
C
Taroni
F
F
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
D001786:Blood Glucose; D005230:Fatty Acids, Nonesterified; D014280:Triglycerides; D019308:Palmitic Acid; D002333:Carnitine Acyltransferases; D020155:3-Hydroxybutyric Acid