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Test Code HGEMS Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Serum

Useful For

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens

 

Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the differential diagnosis of short chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies

 

Diagnosis of glutaric acidemia type 1

 

Aiding in diagnosis of glutaric acidemia type 2

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

HGEM, S

Specimen Type

Serum Red


Necessary Information


Patient's age is required.



Specimen Required


Collection Container/Tube: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 0.1 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.


Specimen Minimum Volume

0.02 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Red Refrigerated (preferred) 90 days
  Frozen  90 days
  Ambient  4 days

Reference Values

2-OH Glutaric acid: ≤4.5 nmol/mL

3-OH Glutaric acid: ≤0.7 nmol/mL

Glutaric acid: ≤0.8 nmol/mL

Methylsuccinic acid: ≤0.3 nmol/mL

Ethylmalonic acid: ≤1.5 nmol/mL

Interpretation

Elevations of ethylmalonic acid (EMA) and methylsuccinic acid (MSA) are consistent with a diagnosis of short chain acyl Co-A dehydrogenase (SCAD) deficiency.

 

Elevation of EMA is consistent with a diagnosis of ethylmalonic encephalopathy.

 

Normal levels of EMA in the context of elevated C4 is consistent with a diagnosis of isobutyryl-CoA dehydrogenase (IBDH) deficiency.

 

Elevation of glutaric acid (GA) and 3-hydroxyglutaric acid (3OH-GA) are consistent with a diagnosis of glutaric acidemia type I (GA1).

 

Elevation of GA, 2-hydroxy glutaric acid (2OH-GA), 3OH-GA, EMA, and MSA are consistent with a diagnosis of glutaric acidemia type II (GA2).

Clinical Reference

1. Rinaldo P, Cowan TM, Matern D. Acylcarnitine profile analysis. Genet Med. 2008;10(2):151-156

2. Vockley J, Zschocke J, Knerr I, Vockley C, Michael Gibson KK. Branched chain organic acidurias. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed March 30, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225085758

3. Frerman FE, Goodman SI. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric acidemia type II. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed March 30, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225088261

4. Larson A, Goodman S. Glutaric acidemia type 1. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2019. Accessed March 30, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK546575/

5. Di Meo I, Lamperti C, Tiranti V. Ethylmalonic encephalopathy. In: Adam MP, Mirzaa GM,, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2017. Accessed March 30, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK453432/

6. Wolfe L, Jethva R, Oglesbee D, Vockley J. Short-chain acyl-CoA dehydrogenase deficiency. In: Adam MP, Mirzaa GM, Pagon RA, et al. eds. GeneReviews [Internet]. University of Washington, Seattle; 2011. Updated August 9, 2018. Accessed March 30, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK63582/

Day(s) Performed

Monday, Wednesday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

83918

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HGEMS HGEM, S 92673-3

 

Result ID Test Result Name Result LOINC Value
36055 2-OH Glutaric acid 69845-6
36056 3-OH Glutaric acid 69851-4
36057 Glutaric acid 27301-1
36058 Methylsuccinic acid 69829-0
36059 Ethylmalonic acid 79476-8
36060 Interpretation (HGEMS) 59462-2
36061 Reviewed By 18771-6