TY - JOUR
T1 - Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency
T2 - Insights on treatment
AU - Parini, R.
AU - Invernizzi, F.
AU - Menni, F.
AU - Garavaglia, B.
AU - Melotti, D.
AU - Rimoldi, M.
AU - Salera, S.
AU - Tosetto, C.
AU - Taroni, F.
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
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U2 - 10.1023/A:1005548201355
DO - 10.1023/A:1005548201355
M3 - Article
C2 - 10472533
AN - SCOPUS:0032772152
VL - 22
SP - 733
EP - 739
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 6
ER -