RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164068071 T1 Dihydropyrimidinase Deficiency T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164068071 RD 2024/03/29 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.