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Carnitine profile

Category Biochemistry
Test background

Acylcarnitine profile (ACP) analysis is performed for the biochemical screening of disorders of fatty acid oxidation (FAO) and organic acid metabolism. In some cases, ACP results are diagnostic for a specific disorder, while in other cases further testing is needed to establish a precise diagnosis. The conditions revealed by acylcarnitine analysis have in common the accumulation of C2-C18 acyl-CoA species, which are substrates for one of several carnitine acyl-CoA transferases expressed in different intracellular compartments. The combined incidence of these disorders is between 1:5,000 and 1:10,000 live births.

Clinicial Indications

Inherited FAO disorders may present at any age, from birth to adulthood, frequently leading to life-threatening episodes of metabolic decompensation after a period of inadequate caloric intake and intercurrent illness. Typical manifestations are hypoketotic hypoglycaemia, liver disease, skeletal and cardiomyopathy. Organic acidaemias are a more heterogeneous group of inborn errors. They typically present with recurrent episodes of acute life-threatening illness, hypo- or hypertonia, failure to thrive, and developmental delay. Common acute manifestations include vomiting, lethargy, coma and seizures.

Reference range

See report

Sample & container required Bloodspots on Guthrie card
Sample volume 4 bloodspots
Turnaround time Up to 6 weeks
Notes

Guthrie cards are available from the post-natal wards, not from Pathology.

Not currently performed in house; this is a referred test.