Table 2.

Other Genes of Interest in the Differential Diagnosis of Glycogen Storage Disease Type V (GSDV)

Gene(s) 1DiffDx DisorderMOIClinical Features of DiffDx Disorder
Overlapping w/GSDVDistinguishing from GSDV
ACADVL VLCAD deficiency AR
  • Exercise intolerance
  • Intermittent rhabdomyolysis
  • Precipitants: prolonged exercise, fasting, cold, fever
  • Normal basal CK
CAV3 Isolated hyperCKemia (OMIM 1233202ADPersistent hyperCKemia (4- to 17-fold higher than normal)
  • No clinical findings of muscle disease
  • Normal lactate exercise testing
CPT2 Carnitine palmitoyl transferase II deficiency AR
  • Myoglobinuria
  • Cramps, premature fatigue
  • Precipitants: after prolonged exercise, fasting, fever
  • Basal CK (inter-episodic) normal
Mitochondrial trifunctional protein deficiency (See Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency.)AREpisodic myoglobinuriaMild sensorimotor axonal peripheral neuropathy
LDHA GSDXI 3 (OMIM 612933)ARExertional myoglobinuria
  • ↑ lactate & pyruvate on exercise testing
  • Uterine muscle may be stiff during pregnancy.
  • Exercise intolerance cramps & myglobinuria
  • No ↑ of lactate on exercise test
  • Compensated hemolysis
  • Hyperuricemia
PGAM2 GSDX 5 (OMIM 261670)AR
  • Myoglobinuria, intolerance for strenuous exercise
  • Basal serum CK ↑
PGK1 Phosphoglycerate kinase 1 deficiency (OMIM 300653)XL
  • Muscle cramps w/exercise
  • Rhabdomyolysis
  • Hemolytic anemia
  • CNS involvement
Phosphorylase kinase deficiency, muscle formsXL
  • Exercise intolerance
  • Myalgia, cramps
  • Myoglobinuria
  • Progressive muscle weakness

AD = autosomal dominant; AR = autosomal recessive; CK = creatine kinase; CNS = central nervous system; DiffDx = differential diagnosis; GSD = glycogen storage disease; MOI = mode of inheritance; VLCAD = very long-chain acyl-CoA dehydrogenase; XL = X-linked


Genes are in alphabetic order.


Also referred to as "creatine phosphokinase, elevated serum"


Lactate dehydrogenase deficiency


Phosphofructokinase deficiency


Phosphoglycerate mutase deficiency

From: Glycogen Storage Disease Type V

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