TY - CHAP M1 - Book, Section TI - D-2-Hydroxyglutaric Aciduria A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a rare neurometabolic disease caused by an increased level of hydroxyglutaric acid in the urine. It is one of the isomeric forms of the 2-hydroxyglutaric aciduria. Clinically, the D-2-hydroxyglutaric aciduria has two phenotypes, mild and severe. Affected individuals present depending on the phenotype variable clinical manifestation. The severe types include psychomotor retardation, generalized hypotonia, macrocephaly, cardiomyopathy, and cortical blindness. Other features include abnormalities of the cerebrum and seizures. The mild phenotype has variable symptomatology. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164067394 ER -