Pyruvate dehydrogenase deficiency in a young boy: a clinical case
Автор: Poretskova G.Yu., Kalinina E.A., Korotkova N.N., Bolgarova O.G., Kuznetsova N.N., Gaisin Sh.I., Beschastnaya E.O.
Журнал: Клиническая практика @clinpractice
Рубрика: Клинические случаи
Статья в выпуске: 2 т.15, 2024 года.
Бесплатный доступ
BACKGROUND: Pyruvate dehydrogenase deficit is a severe hereditary mitochondrial metabolic disease characterized by impaired energy metabolism and manifested by a wide range of neurological symptoms. The difficulty in selecting therapy is due to insufficient data on the management of children with this pathology owing to death at an early age and insufficient diagnosis during life. The accurate prevalence of the disease is unknown, presumably
Children, neurometabolic disease, muscular hypotension, neonatal hyperamonemia, neonatal hyperlactatemia, pyruvate dehydrogenase deficit, ketogenic diet, thiamine
Короткий адрес: https://sciup.org/143183238
IDR: 143183238 | DOI: 10.17816/clinpract629443
