TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: C5OHU    
C5-OH Acylcarnitine, Quantitative, Random, Urine

Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine (C5-OH)

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH).

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The differential diagnosis of an isolated elevation of 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH) in plasma or (newborn screening) blood spots includes the following disorders:

-3-Methylcrotonyl-CoA carboxylase deficiency (common name: 3-methylcrotonylglycinuria), either infantile or maternal

-3-Hydroxy 3-methylglutaryl-(HMG)-CoA lyase deficiency

-Beta-ketothiolase deficiency

-2-Methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency

-3-methylglutaconic aciduria type I

-Biotinidase deficiency

-Holocarboxylase deficiency

 

Confirmatory and diagnostic testing are necessary to differentiate these clinical entities. This test can be used to differentiate patients with 3-methylcrotonylglycinuria and with 3-methylglutaconic aciduria as they typically excrete larger amounts of C5-OH in urine compared to patients with the other diagnoses.

 

The American College of Medical Genetics and Genomics (ACMG) newborn screening work group published diagnostic algorithms for the follow-up of infants who had positive newborn screening results. For more information, see the Practice Resources: ACT Sheets and Algorithms at http://www.acmg.net.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

<2.93 millimoles/mole creatinine

Interpretation Provides information to assist in interpretation of the test results

Preliminary data showed that an elevated excretion in urine and concentration in plasma of 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH) can be the only biochemical abnormalities in patients with 3-methylcrotonylglycinuria.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The results of urine acylcarnitines are typically not informative when the patient is receiving L-carnitine supplements.

Clinical Reference Recommendations for in-depth reading of a clinical nature

Wolfe LA, Finegold DN, Vockley J, et al: Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics. 2007 Nov;120(5):e1335-1340