RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164071134 T1 Glycogen Storage Disease Type V (GSD V) 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=1164071134 RD 2024/03/28 AB Autosomal recessive inherited inborn error of metabolism with an onset usually noticed in childhood. It is often not diagnosed until the third or fourth decade of life. Symptoms include exercise intolerance with muscle pain, early fatigue, painful cramps, and myoglobin in the urine (often provoked by exercise). Severe rhabdomyolysis leading to myoglobinuria is present. Patients may present at emergency rooms with severe fixed muscular contractures and severe pain. These require urgent assessment for rhabdomyolysis that is present in 30% of cases and consequently leads to acute renal failure. Left untreated this is life-threatening. In a small number of cases, Compartment Syndrome may develop, requiring prompt surgical referral.