L‐Carnitine treatment in glutaric aciduria type I

Patients with organic aciduria may have a higher than normal requirement for L-carnitine. In a patient with type I glutaric aciduria, serum total L-carnitine levels were 8.5 μM (normal, 54.4 ± 14.2 [2 SD] μM). After treatment with L-carnitine for 1 month, serum levels of both free and total L-carnitine were normal with an acyl-to-total ratio of 0.18. The fractional clearance rates of free and acylcarnitine were increased fourfold by treatment. Acetylcarnitine accounted for a lower than normal percentage of acylcarnitine recovered in serum and urine. Data suggest that this patient may have been carnitine-deficient.