TY - CHAP M1 - Book, Section TI - Dihydropyrimidinase Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Very rare metabolic disease with highly variable clinical expression, including seizures, mental retardation, microcephaly, and craniofacial anomalies. Other clinical features include early infantile onset of severe neurologic involvement with feeding problems to a later onset accompanied with mild intellectual disability, even asymptomatic individuals. There is an increased risk of pyrimidine degradation defects and severe 5-fluorouracil toxicity. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164068071 ER -