The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000188:drug therapy; D002331:Carnitine / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000378:metabolism / Q000627:therapeutic use* / Q000652:urine; D005260:Female; D006801:Humans; D007223:Infant; D007275:Injections, Intravenous; D011422:Propionates / Q000097:blood* / Q000378:metabolism
D011422:Propionates; C003223:propionylcarnitine; C029658:propionic acid; D002331:Carnitine