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The diagnosis is established by demonstrating abnormally low plasma free carnitine concentrations, reduced carnitine transport of fibroblasts from skin biopsy, and molecular analysis of the gene coding for OCTN2 (33, 34)
Braz J Med Biol Res 45:546556 Schmidt-Sommerfeld E, Penn D, Kerner J, Bieber LL, Rossi TM, Lebenthal E (1989) Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and l-carnitine therapy
These variables can impair both absorption and reliability
& Singh, P
How often are maintenance doses of vitamin B12 injections administered
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