The debut and course of the neonatal form of propionic aciduria: a clinical case

Abstract

Propionic aciduria (PA) is an autosomal recessive hereditary disease from the group of organic aciduria, caused by a deficiency of propionyl-CoA carboxylase, leading to impaired metabolism of methionine, threonine, valine, isoleucine, and fatty acids with an odd number of carbon atoms and cholesterol. The neonatal form of PA manifests itself during the first week of life, is characterized by an acute onset and a crisis course, which is accompanied by severe metabolic acidosis, hypoglycemia, hyperketonemia, hyperammonemia. Clinical symptoms are dominated by neurological disorders up to stupor or coma, which can lead to death. Since 2023, expanded neonatal screening has been introduced throughout the Russian Federation, which includes 36 groups of nosologies, as well as a number of hereditary metabolic diseases.
 Despite the inclusion of this pathology in expanded neonatal screening, doctors’ awareness of clinical manifestations and necessary therapy remains insufficient. Often such patients are diagnosed with, for example: hypoxic-ischemic damage to the central nervous system, acute meningoencephalitis, and others, which leads to inadequate therapy with the development of fatal neurological consequences.
 Therefore, the totality of knowledge and alertness of doctors regarding diseases from the group of hereditary metabolic diseases will help not only to suspect this pathology in a timely manner, but also to prescribe adequate therapy in time, which in the future will make it possible to prevent serious consequences and neurological disorders, as well as disability of patients.