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Medium‐chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment
Author(s) -
Parini R.,
Invernizzi F.,
Menni F.,
Garavaglia B.,
Melotti D.,
Rimoldi M.,
Salera S.,
Tosetto C.,
Taroni F.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005548201355
Subject(s) - translocase , carnitine , triglyceride , medium chain triglyceride , medicine , endocrinology , biochemistry , chemistry , chromosomal translocation , cholesterol , gene
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.