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The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia
Insights
L-carnitine treatment for propionic acidemia in an infant showed limited success. While it increased propionic acid excretion, the infant
Area of Science:
- Biochemistry
- Pediatrics
- Metabolic Disorders
Background:
- Propionic acidemia is a rare genetic disorder causing severe metabolic crises.
- Infants with propionic acidemia struggle to metabolize certain amino acids, leading to toxic byproduct accumulation.
- Pneumonia and heart insufficiency can exacerbate metabolic crises in infants.
Observation:
- A 6-week-old infant with propionic acidemia presented with severe metabolic crisis, pneumonia, and heart insufficiency.
- Intravenous L-carnitine was administered to facilitate propionic acid excretion.
- Despite treatment, the infant experienced respiratory arrest and bradycardia, leading to death within 48 hours.
Findings:
- L-carnitine administration increased propionylcarnitine excretion by approximately 55%.
- Excretion of toxic metabolites 2-methylcitrate and 2-methyl-3-oxovaleric acid decreased during L-carnitine treatment.
- Serum propionic acid levels remained high (0.3 mumol/ml) at the time of death.
Implications:
- L-carnitine may offer some benefit in managing propionic acidemia by enhancing toxin excretion.
- Carnitine's effectiveness might be limited in severe, acute metabolic crises.
- Further research is needed to determine L-carnitine's role in long-term dietary management of propionic acidemia.
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.