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 μmol/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.
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References
Allen RJ, Hansch DB, Wu HLC (1982) Hypocarnitemia in disorders of organic acid metabolism. Lancet ii:500–501
Bieber LL, Lewin LM (1981) Measurement of carnitine and o-acylcarnitines. Methods Enzymol 72:276–287
Cheema-Dhadli S, Leznoff CC, Halperin ML (1975) Effect of 2-methylcitrate on citrate metabolism: Implications for the management of patients with propionic acidemia and methyl malonic aciduria. Pediatr Res 9:905–908
Duran M, Gompertz D, Bruinvis L, Ketting D, Wadman SK (1978) The variability of metabolite excretion in propionic acidemia. Clin Chim Acta 82:93–99
Duran M, Leupold D, van Pelt J, Wadman SK (1983) Propionylcarnitine excretion in propionic acidemia. Prospects for additional treatment? Presentation at the meeting, Düsseldorf 26.5.1983
Lehnert W, Junker A (1980) 2-Methyl-3-oxovaleriansäure: Ein charakteristischer Metabolit bei Propionsäureacidämie. Clin Chim Acta 104:47–51
Lehnert W, Wendel U, Lindenmaier S, Böhm N (1982) Multiple acyl CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical and biochemical findings. Eur J Pediatr 139:56–59
McGarry JD, Foster DW (1976) An improved and simplified radioisotopic assay for the determination of free and esterified carnitine. J Lipid Res 17:277–282
Roe ChR, Bohan TP (1982) l-carnitine therapy in propionic acidemia. Lancet i: 1411–1412
Roe CR, Hoppel CL, Stacey TE, Chalmers RA, Tracey BM, Millington DS (1983) Metabolic response to carnitine in methylmalonic aciduria. Arch Dis Child 58:916–920
Seccombe DW, Snyder F, Parsons HG (1982) l-carnitine for methylmalonic aciduria. Lancet ii:1401
Tanaka K, Isselbacher KJ, Shih V (1972) Isovaleric and alpha-methylbutyric acidemias induced by hypoglycin A: Mechanism of Jamaican vomiting sickness. Science 175:69–71
Wolff L, Müller DM, Strack E (1971) Die Toxizität von l(-)-Carnitin und einigen o-Azylcarnitinen. Acta Biol Med Ger 26:1237–1241
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Böhles, H., Lehnert, W. The effect of intravenous l-carnitine on propionic acid excretion in acute propionic acidaemia. Eur J Pediatr 143, 61–63 (1984). https://doi.org/10.1007/BF00442751
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DOI: https://doi.org/10.1007/BF00442751