Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism.
OBJECTIVE
To evaluate the status of pediatric reference intervals for several biomarkers of inborn errors of metabolism (IEM).


BACKGROUND
There are several biomarkers that are used in many laboratories that specialize in biochemical genetics. Among them, there are acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid and very long chain fatty acids. These tests are key to exclusion or inclusion of an IEM, therefore appropriate age-related references intervals are crucial. A detailed review of each selected analyte is given.


RESULTS
Published reference intervals do not always address the dependency of age, gender, or ethnic background; they are not established for newer laboratory methodologies and are derived from a limited number of healthy controls for most markers.


CONCLUSIONS
To address the gap in pediatric reference intervals, the Canadian research project (CALIPER database) will establish comprehensive reference intervals for acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid, and very long chain fatty acids. All the tests will be limited to whole blood, plasma and serum samples.
Lepage
Nathalie
N
Division of Biochemistry, Department of Laboratory Medicine, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa ON, Canada, K1H 8LI. nlepage@cheo.on.ca
Li
Dailin
D
Kavsak
Peter A
PA
Bamforth
Fiona
F
Callahan
John
J
Dooley
Kent
K
Potter
Murray
M
D015415:Biomarkers / Q000032:analysis*; D002648:Child; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000628:therapy*; D010372:Pediatrics; D012016:Reference Values
D015415:Biomarkers