Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician

Abstract

Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of central nervous system, liver, kidneys, and other organs and systems. Hereditary urea cycle disorders occur because of enzyme deficiency leading to impaired urea synthesis and hyperammoniemia in patients. The age of disease onset and clinical manifestations severity range from milder, intermittent forms to severe, manifesting in the first hours of life. Expanded neonatal screening (implemented in Russian Federation at 01.01.2023) allows to diagnose diseases from these groups in the first days of life, to prescribe timely pathogenetic therapy. Altogether it helps to prevent the development of disease severe complications. Raising awareness about hereditary aminoacidopathies and urea cycle disorders among pediatricians, neonatologists, neurologists, gastroenterologists, ophthalmologists is a topical issue of modern pediatrics.

Keywords

• neonatal screening
• aminoacidopathy
• hereditary amino acid metabolism disorders
• urea cycle disorders