Comprehensive organic acid profiling from urine by GC-MS. Identification of over 40 inherited metabolic disorders.
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:
Over 40 metabolites including lactic acid, citric acid cycle intermediates, fatty acid oxidation metabolites, amino acid catabolites, and neurotransmitter metabolites.
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.
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