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

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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.

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.

Frequently Asked Questions

What is organic acids?

Organic Acids is an important biomarker for diagnosis of organic acidurias (propionic, methylmalonic, isovaleric acidaemia). Masdiag measures organic acids using validated analytical methods to provide clinically actionable results.

Why is organic acids important?

Organic Acids testing is valuable for Diagnosis of organic acidurias (propionic, methylmalonic, isovaleric acidaemia), Detection of fatty acid oxidation disorders. Understanding organic acids levels helps inform personalized health optimization and clinical decision-making.

How is the organic acids sample collected?

Organic Acids is measured from blood. Professional collection ensures proper sample handling and accurate results.

Who should get a organic acids test?

This test is recommended for individuals interested in diagnosis of organic acidurias (propionic, methylmalonic, isovaleric acidaemia). Masdiag organic acids testing helps guide personalized supplementation and health optimization strategies based on objective biomarker data.

What do organic acids results tell us?

Organic Acids results provide insight into your metabolic status and diagnosis of organic acidurias (propionic, methylmalonic, isovaleric acidaemia). Combined with clinical context, Masdiag results inform evidence-based interventions for personalized health optimization.

Interested in this method?

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