Propionic acidemia is a rare hereditary metabolic disease with autosomal recessive type of inheritance, which is associated with a violation of the metabolism of organic acids. The disease is caused by the deficiency of the propionyl CoA carboxylase enzyme, which leads to the accumulation of propionic acid and its metabolites in organs and tissues. Two main forms of the disease are clinically distinguished: acute neonatal one and infant (or late) one. Diagnostics of the disease is a difficult task, because clinical symptoms caused by metabolic defects are often found in intrauterine infections, hypoxic-ischemic damage to the central nervous system, and brain malformations. Laboratory diagnostics is based on the increase of the content of propionic acid, metabolites, isoleucine, valine, methionine, and threonine in the blood. For accurate verification, a molecular genetic study with the search of mutations in the PCCA and PCCB genes is required. Confirmation of the diagnosis is important not only for the management of patients, but also when planning subsequent births in such families. The article presents the observation of propionic acidemia in a child at the age of 3 months. This case was demonstrated in order to attract the attention of pediatricians to the problem of hereditary metabolic diseases. Despite objective difficulties in the diagnostics of propionic acidemia, such supporting symptoms as early onset of the disease with the presence of specific crises caused by toxic encephalopathy, laboratory changes that record metabolic acidosis, specific changes in blood and urine during the genetic study help to not only suspect and diagnose the disease, but also timely prescribe specific treatment and save the life of the child.
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