Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment

R. Parini, F. Invernizzi, F. Menni, B. Garavaglia, D. Melotti, M. Rimoldi, S. Salera, C. Tosetto, F. Taroni

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)733-739
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume22
Issue number6
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

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