TY - CHAP M1 - Book, Section TI - Alpha-Ketoglutarate Dehydrogenase Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Characterized by hypotonia and metabolic acidosis and hyperlactatemia immediately after birth. The life expectancy is limited to about 30 months. Death is caused by neurologic deterioration. Other clinical features include axial hypotonia with no head control until later in childhood. Metabolic acidosis with acute episodes of acidotic decompensation and sometimes hypoglycemia may occur during emotional or physical stress and infections. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164061432 ER -