RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164060599 T1 Acyl-CoA Dehydrogenase Deficiency Syndromes 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=1164060599 RD 2024/11/08 AB Acylated coenzyme A (Acyl-CoA) dehydrogenases are a large family of mitochondrial flavoproteins that catalyze α,β-dehydrogenation of Acyl-CoA esters in the mitochondrial matrix. Fatty acids are an essential energy substrate for a number of tissues, including heart, brain, skeletal muscles, pancreas, kidney, liver, brown adipose tissue, and placenta. The different disorders are inherited as an autosomal recessive trait. Acyl-CoA dehydrogenase deficiency syndromes in general are a potentially very serious group of diseases. In one case series with a total of 154 patients, only one-third was still alive at the time of publication, one-third died within the first week and two-thirds within the first year of life. In more than 40% of affected families, there was at least one death in the sibship. Hepatic symptoms (steatosis, hypoketotic hypoglycemia, hepatomegaly, ☞Reye Syndrome-like symptoms) were observed in 73% of patients, while true hepatic failure occurred in 10% of patients. Cardiac anomalies were found in 51% of patients (67% of them with [mainly hypokinetic and hypertrophic] cardiomyopathy and 47% with arrhythmias) causing collapse, near-missed, or sudden unexpected death. Renal symptoms (tubulopathy) and transient renal failure were present in 27% of patients. It is important to recognize that although hypoglycemia is often present during metabolic decompensations, it is a late sign and neither suitable to monitor the severity of the illness nor to direct treatment. In many countries, screening for Acyl-CoA dehydrogenase deficiency syndromes is now part of the regular newborn workup and identified patients have generally remained healthy due to proactive measures when prolonged fasting is expected or intercurrent illness occurs. However, it is possible that serious symptoms already occur in the first days of life, ie, before the screening results are known.