Orotic acid | in urine

General Information

Orotic acid

Orotic acid is a natural intermediate in nucleotide biosynthesis that participates in the synthesis of pyrimidines. It is synthesized with the participation of mitochondrial enzymes.

The orotic acid blood test is used to diagnose inherited metabolic disorders and rare forms of anemia.

Hyperproduction of orotic acid is carried out by two mechanisms:

1. Deficiency of enzymes involved in pyrimidine synthesis, which leads to the accumulation of orotic acid and deficiency of pyrimidine nucleotides in the body (hereditary orotic acid accumulation - by autosomal recessive inheritance). Deficiency of pyrimidine nucleotides is manifested by disruption of cell division processes, which may be clinically manifested by megaloblastic anemia, retardation of growth and development.
2. Genetic disorders of the urea cycle: ornithine-carbamylase deficiency, citrullinemia, arginine succinate accumulation, amino acid transport defect.

Material for examination:Spontaneous urine

Preliminary preparation:it is not necessary

Reference norms:

Infants: < 7 mg/g in relation to creatinine

Children < 10 years: < 5 mg/g in relation to creatinine

Children > 10 years of age and adults < 2 mg/g creatinine ratio