BCH210H1 Lecture Notes - Lecture 34: Carnitine Palmitoyltransferase Ii, Glycogen Storage Disease, Glycogen Storage Disease Type V

• School: UTSG
• Department: Biochemistry
• Course: BCH210H1
• Professor: Stavroula Andreopoulos, Roman Melnyk, Sian Patterson, Reinhart Reithmeier

Document Summary

Rhabdomyolysis the damage to skeletal muscle, leading to leakage of cellular components into blood or urine. Detection brown coloured urine (myoglobinuria) due to heme metabolism and release from myoglobin. Increased serum creatine kinase can be detected; this is a marker for heart attacks (heart muscle) Drugs or toxins; infection; metabolic disorders; genetically inherited disorders. Ischemia (inadequate blood supply, thus inadequate oxygen supply) Mcardle disease type of glycogen storage disease; there are many different types, all depending on which enzyme is affected. Autosomal recessive mutation in the pygm gene; encodes for glycogen myophosphorylase prevents glycogen breakdown in muscle cells (ie. we have glycogen stored but we can"t break it down and use it) Must rely on fat and protein catabolism for energy; we can still break down any dietary glucose or any glucose coming from the liver (gng or liver glycogen breakdown) Fatigue & muscle weakness due to lowered atp levels in muscles and the death of muscle cells (rhabdomyolysis)