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Glycogen and glucose metabolism associated enzyme deficiencies

Roman numbers indicate nomenclature for muscle glycogenoses: numerals in color orange for glycogenoses causing rhabdomyolysis, in green color for those causing fixed weakness. Glycogenoses types: 0, glycogen synthase; II, acid maltase (GAA, Pompe disease); III, debrancher (GDE, Cori-Forbes disease); IV, brancher (GBE, Andersen disease); V, myophosphorylase (PYGM, McArdle disease); VII, phosphofructokinase (PFK, Tarui disease); IX, phosphorylase kinase (PHK); phosphoglycerate kinase (PGK); X, phosphoglycerate mutase (PGAM); XI, lactate dehydrogenase (LDH); XII, aldolase A; XIII, β-enolase; XIV, phosphoglucomutase (PGM); XV, glycogenin. Abbreviations: UDPG, uridine diphosphate glucose; PLD, phosphorylase limit dextrin. (Contributed by Dr. Ezequiel A Piccione.)

Associated Disorders

  • Acute renal failure
  • Compensated hemolytic anemia
  • Hyperuricemia with or without gouty arthritis
  • Sudden infant death syndrome (SIDS)