Organic acids in urine

General Information

Organic acids are substances that are intermediate products of the metabolism of cellular organic components – amino acids, lipids, carbohydrates, nucleic acids, steroids.

Organic acidosis is a group of genetic metabolic diseases characterized by either the production of abnormal metabolites or the accumulation of normal metabolites in the body.

These disorders may manifest both in infancy and later in life as periodic episodes of metabolic decompensation and developmental delay.

Organic acids are excreted in the urine, so their determination in urine provides a more accurate answer than in plasma.

When is the survey conducted?

• Genetic disorders of organic acid and amino acid metabolism, urea cycle defect, mitochondrial respiratory chain defect
• The presence of symptoms that indicate hereditary metabolic disorders:
• Neonatal sepsis-like illness
• Unexplained episodes of metabolic decompensation: metabolic acidosis, hyperammonemia, hypoglycemia, ketosis
• Neurological disorders: hypotonia, dystonia, seizures, lethargy, developmental delay
• Unexplained liver dysfunction
• Cardiomyopathy (at any age)
• Myopathy, rhabdomyolysis (breakdown of muscle fibers)
• Fatty liver, hepatocytolysis (breakdown of liver cells), hypertension
• HELLP syndrome (complication during the third trimester of pregnancy)
• Reye's syndrome
• Organomegaly (enlargement of organs), coarse facial features

In hereditary organic aciduria, especially in infants and young children, it is also necessary to study plasma amino acids, since the symptoms of some aminoacidemias are exactly identical.

Because metabolic disorders are difficult to detect, it is necessary to conduct research during periods of exacerbation of the disease.

Research material – Spontaneous urination 

Interpretation of results

Detection of pathological indicators of organic acids in urine is insufficient for the diagnostics of hereditary metabolic disorders. Additional diagnostic studies are necessary (e.g. molecular analysis, in vitro enzyme tests, etc.).

Organic acids:

• Lactate
• Pyruvate
• Isovaleryl-glycine
• 3-OH-isovaleric acid
• 3-Hydroxy-3-methylglutaric acid
• 3-Methylglutaric acid
• 3-Hydroxy-isovaleric acid
• Hydroxy-isovaleric acid
• 3-Methylcrotonylglycine
• 2-Methyl-3-hydroxyerbic acid
• Methylacetoacetic acid
• 3-Hydroxypropionic acid
• Methylcitric acid
• Methylmalonic acid
• Lactic acid
• 2-Ketoadipic acid
• 2-ketoglutaric acid
• 2-Aminoadipic acid
• Ethylmalonic acid
• Glutaric acid
• 3-Hydroxyglutaric acid
• Glutathione acid
• Adipic acid
• Glutaconic acid
• Dicarboxylic acid
• 3-Hydroxycarboxylic acid
• Erbic acid
• Isoerboic acid
• 2-methylbenzene