Carnitine deficiency

Reduced tissue carnitine. The primary form is a rare genetic disorder of the OCTN2 transporter (SLC22A5). The secondary form develops with chronic haemodialysis, valproate or pivampicillin therapy, in preterm infants and in inherited fatty-acid oxidation disorders. Presents with muscle weakness, cardiomyopathy, hypoglycaemia and hyperammonaemia.

ICD-10 E71.31 drug

Also known as: Primary systemic carnitine deficiency, Secondary carnitine deficiency

Drugs used for this condition

ALevocarnitine (L-carnitine)First line · Amino acid derivative; cofactor for long-chain fatty acid transport into mitochondriaLevocarnitine is the first-line drug for primary systemic carnitine deficiency (OCTN2 transporter genetic defect) and secondary deficiency on long-term haemodialysis, valproate or pivampicillin therapy, and in preterm infants. The FDA approved Carnitor for this indication in 1985. AEMPS includes levocarnitine in the standard for metabolic disorders of fatty-acid oxidation.

How to read tiers A–F

Evidence tiers belong to the drug-indication pair, not to the drug as a whole: the same substance can be A for one condition and F for another.

AStrong evidence – first or second line in international guidelines
BRecommended in selected cases
CStudy data contradict each other
DBenefit not proven, no documented harm
FDocumented harm, or risk without benefit