Glycogen storage disease type Ia (GSD-Ia; Von Gierke disease) is an inherited disease caused by glucose-6-phosphatase deficiency. Perioperative management of patients with GSD has important implications for anaesthesiologists due to different system involvements. Continue reading
VACTERL syndrome presents many challenges related to anesthesia management due to multiple congenital malformations that may include vertebral, cardiac, tracheo-esophageal, renal and extremity anomalies. Continue reading
Glycogen storage disease type 1a is a rare inborn error of metabolism. It causes severe fasting intolerance and lactic acidosis due to the deficiency of glucose-6-phosphatase enzyme. Continue reading
Crigler Najjar Syndrome (CNS) is an ultra-rare autosomal recessive inherited disorder caused by a mutation in the uridine glucronyl 5’-diphosphate-glucronyl transferase (UGT) gene. Continue reading
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