TY - CHAP M1 - Book, Section TI - Glycogen Storage Disease Type V (GSD V) A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164071134 ER -