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

J Inherit Metab Dis. 1999 Aug;22(6):733-9. doi: 10.1023/a:1005548201355.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxybutyric Acid / blood
  • Blood Glucose / metabolism
  • Carnitine Acyltransferases / deficiency*
  • Cells, Cultured
  • Diet
  • Fatty Acids, Nonesterified / blood
  • Fibroblasts / enzymology
  • Humans
  • Infant, Newborn
  • Male
  • Oxidation-Reduction
  • Palmitic Acid / metabolism
  • Prognosis
  • Triglycerides* / metabolism

Substances

  • Blood Glucose
  • Fatty Acids, Nonesterified
  • Triglycerides
  • Palmitic Acid
  • Carnitine Acyltransferases
  • 3-Hydroxybutyric Acid