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.
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.
|Sample & container required
|Bloodspots on Guthrie card
|Up to 6 weeks
Guthrie cards are available from the post-natal wards, not from Pathology.
Not currently performed in house; this is a referred test.