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.
| Original language | English |
|---|---|
| Pages (from-to) | 733-739 |
| Number of pages | 7 |
| Journal | Journal of Inherited Metabolic Disease |
| Volume | 22 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 1999 |
ASJC Scopus subject areas
- Endocrinology
- Genetics
- Genetics(clinical)
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Parini, R., Invernizzi, F., Menni, F., Garavaglia, B., Melotti, D., Rimoldi, M., Salera, S., Tosetto, C., & Taroni, F. (1999). Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment. Journal of Inherited Metabolic Disease, 22(6), 733-739. https://doi.org/10.1023/A:1005548201355