Primary carnitine deficiency

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Disease Overview

Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia.[4500] Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.[5313]


Synonyms

  • Systemic primary carnitine deficiency
  • Carnitine uptake defect
  • Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
  • Carnitine plasma-membrane transporter deficiency
  • Carnitine transporter deficiency
  • Carnitine uptake deficiency

For more information, visit GARD.

National Organization for Rare Disorders