Related Experiment Video
Updated: Jan 3, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism
Nina B Gold, Amy Kritzer1, Debra L Weiner2
1Divisions of Genetics and Genomics.
Background:
Children with inborn errors of metabolism (IEM) are at risk for metabolic crises triggered by acute illnesses. Crises are identified through laboratory evaluations.
Objectives:
Our objective was to determine national adherence to minimum laboratory evaluations for patients with IEM in emergency departments (EDs), as well as factors associated with laboratory evaluation adherence.
Methods:
Using the Pediatric Health Information System, we identified visits to 48 EDs from 2012 to 2017 by children with IEM. We analyzed visits for catabolic conditions (dehydration, gastroenteritis, or vomiting) and determined variation in minimum laboratory evaluation adherence. Multivariable models were created to determine predictors of adherence.
Results:
Among the visits by children with disorders of the urea cycle, organic acid metabolism, and fatty acid oxidation, 1457 (76.3%) of 1909 adhered to the minimum laboratory evaluation. Median ED-level adherence was 78.2% (interquartile range, 67.4-92.5). Factors associated with adherence were disorder [fatty acid oxidation vs urea cycle disorder; adjusted odds ratio (aOR), 9.35; 95% confidence interval (CI), 4.07-21.47], annual ED volume of patients with IEM (quartile 4 vs 1; aOR, 3.58; 95% CI, 1.51-8.49), and presence of a biochemical genetics fellowship (aOR, 0.29; 95% CI, 0.14-0.62).
Conclusions:
Patients with IEM frequently did not receive minimum laboratory evaluations for catabolic conditions. Measures to improve laboratory use in children with IEM should be undertaken.
Related Concept Videos
Inborn Errors of Metabolism
Serum Laboratory Studies, Stool Test, Breath Test
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
Urine Studies I: Urinalysis
Serum Studies: Renal Function Tests

