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 123320) 2ADPersistent 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
HADHA
HADHB 		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.
PFKM GSDVII 4 (OMIM 232800)AR
  • 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
PHKA1
PHKB
PHKG2 		Phosphorylase kinase deficiency, muscle formsXL
AR
  • 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

1.

Genes are in alphabetic order.

2.

Also referred to as "creatine phosphokinase, elevated serum"

3.

Lactate dehydrogenase deficiency

4.

Phosphofructokinase deficiency

5.

Phosphoglycerate mutase deficiency

From: Glycogen Storage Disease Type V

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.