Inherited Metabolic Disorders OA

Organic Acids Profile.

Comprehensive organic acid profiling from urine by GC-MS. Identification of over 40 inherited metabolic disorders.

Quick Reference
Method
GC-MS
Sample Types
Urine
Analytes

40+ metabolites

Turnaround

3–5 working days

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What does this test assess?

This method enables identification and monitoring of a broad range of inherited metabolic disorders through the detection of characteristic organic acid patterns in urine.

Clinical indications include:

  • Diagnosis of organic acidurias (propionic, methylmalonic, isovaleric acidaemia)
  • Detection of fatty acid oxidation disorders
  • Identification of amino acid metabolism defects
  • Diagnosis of disorders of the citric acid cycle
  • Detection of mitochondrial disorders
  • Investigation of unexplained metabolic acidosis, hypoglycaemia, or developmental delay

Measured analytes

Analyte coverage

Over 40 metabolites including lactic acid, citric acid cycle intermediates, fatty acid oxidation metabolites, amino acid catabolites, and neurotransmitter metabolites.

Key markers and reference ranges

Organic acid panels measure 40+ metabolites, each with its own reference range. Key markers are grouped by metabolic pathway:

  • Citric acid cycle intermediates — reflect energy production and mitochondrial function
  • Methylmalonic acid — functional marker of vitamin B12 status
  • Pyroglutamic acid — indicator of glutathione status and oxidative stress
  • Quinolinic acid — marker of neuroinflammation and tryptophan metabolism
  • Hippuric acid — reflects gut dysbiosis and detoxification capacity
Interpretation

Reference ranges are age-adjusted. Your report groups markers by metabolic pathway for easier interpretation.

Who should test their organic acids?

Organic acid testing may be indicated for:

  • People with chronic fatigue or mitochondrial dysfunction
  • Children with developmental delays or autism spectrum presentations
  • Individuals with suspected nutritional deficiencies not revealed by standard blood tests
  • Anyone with mood disorders, brain fog, or neurological symptoms
  • People with recurrent yeast overgrowth or gut dysbiosis
  • Athletes monitoring metabolic efficiency
  • Patients being evaluated for inborn errors of metabolism
  • Functional medicine practitioners seeking comprehensive metabolic insight

How to support metabolic health

Targeted interventions based on organic acid results:

  • Targeted B-vitamin supplementation — based on specific metabolic blocks identified in the panel
  • Mitochondrial support — CoQ10, carnitine, ribose, and magnesium for energy production
  • Gut health protocols — probiotics and antifungals (if indicated) for dysbiosis markers
  • Amino acid and protein optimisation — address deficiencies in protein metabolism
  • Detoxification support — targeted support for impaired phase II detoxification markers
  • Lifestyle factors — exercise, sleep, and stress management all support metabolic function
Re-testing

Re-test after 3–4 months of targeted intervention to track metabolic improvement.

Analytical technique

Urinary organic acids are extracted, derivatised (trimethylsilylation), and analysed by gas chromatography-mass spectrometry (GC-MS). The method provides comprehensive metabolite coverage with library-based identification of both known and unusual metabolites.

Testing process

From enquiry to results — a straightforward process.

1
Get in touch
Contact us to discuss your testing requirements
2
Collect your sample
Collect a urine sample using the provided collection kit
3
Send to our lab
Urine samples are shipped to our laboratory following standard protocols
4
Receive results
Results delivered within 3–5 working days of sample receipt

Where this test is available

This test is available to healthcare professionals, wellness brands, clinics, and research institutions worldwide. We currently serve partners in:

  • Europe (EU & non-EU)
  • United Kingdom
  • Asia & Southeast Asia
  • Australia & New Zealand
  • United States

Whether you need testing services for your patients, white-label kits for your brand, or method transfer to your own laboratory — get in touch to discuss how we can work together.

Frequently Asked Questions

What is an organic acids test?

An organic acids test is a comprehensive metabolic screening that analyses over 200 organic acid metabolites in urine by GC-MS (gas chromatography-mass spectrometry). Organic acids are intermediary metabolic products that accumulate when specific enzyme pathways are disrupted, providing characteristic patterns that identify the underlying metabolic disorder.

What conditions can this test identify?

The test can identify over 40 inherited metabolic disorders including propionic acidaemia, methylmalonic acidaemia, isovaleric acidaemia, glutaric aciduria types I and II, maple syrup urine disease, fatty acid oxidation disorders, and mitochondrial disorders. It is one of the most comprehensive single-test screens available for inborn errors of metabolism.

How is the sample collected?

A random urine sample is collected — no special timing or preparation is required. The urine is collected using a standard collection container and shipped to our laboratory following standard protocols.

How long does it take to get results?

Results are typically delivered within 3 to 5 working days from the time your sample arrives at our laboratory. The analysis is performed by GC-MS, providing detailed identification and quantification of organic acid metabolites.

Is this the same as a functional medicine OAT?

While both tests analyse urinary organic acids, our clinical organic acids test is focused on diagnosing inherited metabolic disorders using validated GC-MS methodology with established clinical reference ranges. It is designed for clinical and diagnostic use rather than wellness screening, and results are interpreted in the context of known metabolic disease pathways.

Which countries is this test available in?

Masdiag's organic acids test is available worldwide through our partner network. We currently serve healthcare professionals, metabolic disease centres, and clinics in Europe, the United Kingdom, Asia, Australia, New Zealand, and the United States. Contact us to discuss testing services or method transfer.

Interested in this method?

Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.