Analysis of the spectrum of organic acids in urine using gas chromatography with mass spectrometry (GC/MS)

The group of hereditary metabolic diseases “organic acidemia/aciduria, aminoacidopathy” includes about 150 diseases that are characterized by increased excretion of organic acids in the urine. Most diseases are associated with disorders of a certain stage of amino acid catabolism.

A portion of morning urine (10-15 ml) collected in a sterile airtight container is required for the study. 3 days before collecting urine, it is advisable not to eat fruits, juices, jam, chocolate, coffee, cocoa, sweets. If possible, avoid heavy drinking at night. If the patient is on artificial feeding, it is necessary to indicate the mixtures taken in the referral form.