ISSN:
1432-1076
Keywords:
Propionic acidaemia
;
Carnitine treatment
;
Propionyl carnitine
;
2-methylcitrate
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442751
