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Test ID: C5DCU C5-DC Acylcarnitine, Quantitative, Random, Urine

Reporting Name

C5-DC Acylcarnitine, QN, U

Useful For

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine


Diagnosis of glutaric aciduria type 1 deficiency

Specimen Type


Ordering Guidance

This second-tier test is used specifically to evaluate a newborn screening elevation of glutarylcarnitine and must not be ordered with either C4U / C4 Acylcarnitine, Quantitative, Random, Urine or C5OHU / C5-OH Acylcarnitine, Quantitative, Random, Urine.


For general screening for metabolic disorders, see OAU / Organic Acids Screen, Random, Urine; ACRN / Acylcarnitines, Quantitative, Plasma; and AAQP / Amino Acids, Quantitative, Plasma.

Necessary Information

Include patient's age, family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.

Specimen Required

Patient Preparation: If clinically feasible, discontinue L-carnitine supplementation at least 72 hours before specimen collection.

Supplies: Urine Tubes, 10 mL (T068)

Collection Container/Tube: Clean, plastic urine collection container

Submission Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 5 mL

Collection Instructions:

1. Collect a random urine specimen.

2. Freeze specimen immediately.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Frozen (preferred) 7 days
  Refrigerated  24 hours

Day(s) Performed

Monday, Wednesday, Friday

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
C5DCU C5-DC Acylcarnitine, QN, U 54279-5


Result ID Test Result Name Result LOINC Value
88831 C5-DC Acylcarnitine, QN, U 54279-5
28126 C5-DC Interpretation 59462-2
34470 Reviewed By 18771-6

Clinical Information

An isolated elevation of glutarylcarnitine (C5-DC) in plasma or newborn screening blood spots is related to a diagnosis of glutaric aciduria type 1 (GA-1), also known as glutaric acidemia type 1. GA-1 is caused by a deficiency of glutaryl-CoA dehydrogenase. Diagnostic testing by acylcarnitine analysis, including the evaluation of C5DC in urine, is helpful to determine if a patient has GA1.(1) Urinary excretion of C5-DC is a specific biochemical marker of GA-1 that appears to be elevated even in low excretors, those patients who are affected but have normal levels of glutaric acid in urine.


GA-1 is characterized by bilateral striatal brain injury leading to dystonia, often a result of acute neurologic crises triggered by illness. Many affected individuals also have macrocephaly. Dietary treatment and aggressive interventions during time of illness are recommended to try to prevent or minimize neurologic injury, which is most likely to occur in infancy and early childhood. Prevalence is approximately 1 in 100,000 individuals.


The American College of Medical Genetics and Genomics newborn screening work group published diagnostic algorithms for the follow-up of infants who had a positive newborn screening result. For more information, see the Practice Resources: ACT Sheets and Algorithms at


Elevated excretion of glutarylcarnitine is a specific biochemical marker of glutaric aciduria type 1 that is elevated in affected patients, apparently even in low excretors, ie, those affected individuals with normal levels of glutaric acid in urine.

Clinical Reference

1. Miller MJ, Cusmano-Ozog K, Oglesbee D, Young S; ACMG Laboratory Quality Assurance Committee: Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Feb;23(2):249-258

2. Kolker S, Christensen E, Leonar JV, et al: Diagnosis and management of glutaric aciduria type I-revised recommendations. J Inherit Metab Dis. 2011 Jun:34(3):677-694

3. Guenzel AJ, Hall P, Scott AI, et al: The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses. JIMD Rep.2021 Apr 5;60(1)67–74

Report Available

2 to 5 days

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: