The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia

Abstract

A 6-week-old female infant presented in a severe metabolic crisis from propionic acidaemia. The condition was aggravated by pneumonia and heart insufficiency. In addition to the general supportive measures and caloric intake exclusively from glucose, intravenous L-carnitine treatment (2 g L-carnitine/24 h) was started to enhance propionic acid excretion as a carnitine conjugate. Despite the therapeutic efforts the patient died about 48 h after admission in sudden respiratory arrest and bradycardia. Serum propionic acid concentration was increased to 0.3 mumol/ml. Propionylcarnitine excretion was measured and about 55% of the overall excretion during the 48 h treatment period was attributed to an effect of carnitine administration. 2-methylcitrate and 2-methyl-3-oxovaleric acid excretion decreased during the same period. Obviously carnitine was not able to prevent metabolic deterioration but may provide some additional "buffer capacity" during long-term dietary treatment.