Abstract
Twin girls were found at 3 mo to have fatty liver, transient erythroblastopenia, hypoglycemia, and cardiomyopathy. One twin died suddenly at 7 mo; autopsy showed fatty infiltration of the viscera and tissue carnitine was extremely low. In the surviving twin total carnitine was 8-12 uM in plasma, 160 uM in muscle, and 130 uM in liver, all very low. Carnitine, but not its precursor trimethylsine, was low in urine. Urinary C6-C10 dicarboxylic acids were increased. At 14 mo, fasting for 10 hr resulted in lethargy and hypoglycemia. Plasma free fatty acids (FFA) were increased, while short and long chain acyl carnitines (SCA,LCA) were low (see Table). The RQ(CO2/O2) and disappearance rate of an i.v. glucose load (3.8 %/min) were relatively high. Treatment with 1-carnitine, 50 mg/kg d, begun at 15 mo increased plasma carnitine to 75-90 uM. Muscle, liver, and cardiac function improved; mental development was normal. At 19 mo, fasting for 17 hrs was well tolerated with normalization of metabolism:
Treatment with 1-carnitine improved oxidation of fat while fasting, and improved the prognosis of this potentially fatal illness.
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Kerr, D., Shurin, S., Tserng, KY. et al. 1143 METABOLIC EFFECTS OF TREATMENT OF SYSTEMIC CARNITINE DEFICIENCY. Pediatr Res 15 (Suppl 4), 633 (1981). https://doi.org/10.1203/00006450-198104001-01169
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DOI: https://doi.org/10.1203/00006450-198104001-01169
