How is carnitine deficiency treated?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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In infants with carnitine deficiency ascertained via newborn screen program, oral carnitine supplementation is followed by a slow increase of plasma carnitine levels. If the infants’ levels reflect maternal primary carnitine deficiency, the rise in plasma levels is fast and this should prompt the work-up towards the diagnosis of maternal primary carnitine deficiency. Guidelines for the management of carnitine deficiency and other fatty acid mitochondrial disorders have been established. [13]

Evaluation for carnitine deficiency may be performed on an outpatient basis. In cases of acute decompensation, inpatient studies may be necessary in the acute phase and following stabilization of the patient.

In acute situations, if the patient presents with hypoketotic hypoglycemic encephalopathy, insure stabilization with 10% dextrose in water at rates of 10 mg/kg/min intravenous (IV) initially; adjust infusion rate according to blood glucose concentrations.

IV carnitine restores tissue carnitine concentrations for the transport of fatty acids in the mitochondria. This treatment removes toxic metabolites in the form of carnitine esters that are readily excreted in the urine. The use of IV carnitine should be considered only when the diagnosis of primary carnitine deficiency is entertained or confirmed. The use of IV carnitine in disorders of fatty acid oxidation in which long-chain acylcarnitines accumulate and have the potential of being arrhythmogenic is controversial. IV carnitine may be considered in cases of organic acidemias (eg, isovaleric acidemia, propionic acidemia, methylmalonic acidemia) when oral intake is not feasible.

Consider pharmacological support for cardiomyopathy.

Medical therapy with oral carnitine in primary carnitine deficiency improves fasting ketogenesis, cardiac function, growth, and cognitive performance.

Direct the therapy in secondary carnitine deficiency to replenish carnitine and treat the primary metabolic defect with specific diet and other supplements, such as riboflavin, glycine, or biotin.

Actively avoid periods of fasting in these patients.

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