Type VII Glycogen Storage Disease Differential Diagnoses

1. Morales JA, Anilkumar AC. Glycogen Storage Disease Type II. 2021 Jan. [QxMD MEDLINE Link]. [Full Text].

2. Tarnopolsky MA. Metabolic Myopathies. Continuum (Minneap Minn). 2016 Dec. 22 (6, Muscle and Neuromuscular Junction Disorders):1829-1851. [QxMD MEDLINE Link].

3. Godfrey R, Quinlivan R. Skeletal muscle disorders of glycogenolysis and glycolysis. Nat Rev Neurol. 2016 Jul. 12 (7):393-402. [QxMD MEDLINE Link].

4. Tarui S, Okuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M. Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem Biophys Res Commun. 1965 May 3. 19:517-23. [QxMD MEDLINE Link].

5. Garcia M, Pujol A, Ruzo A, et al. Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. PLoS Genet. 2009 Aug. 5(8):e1000615. [QxMD MEDLINE Link]. [Full Text].

6. DiMauro S, Miranda AF, Sakoda S, et al. Metabolic myopathies. Am J Med Genet. 1986 Dec. 25 (4):635-51. [QxMD MEDLINE Link].

7. Musumeci O, Bruno C, Mongini T, Rodolico C, Aguennouz M, Barca E, et al. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord. 2012 Apr. 22 (4):325-30. [QxMD MEDLINE Link].

8. Vora S, Davidson M, Seaman C, Miranda AF, Noble NA, Tanaka KR, et al. Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency. J Clin Invest. 1983 Dec. 72 (6):1995-2006. [QxMD MEDLINE Link].

9. Madhoun MF, Maple JT, Comp PC. Phosphofructokinase deficiency and portal and mesenteric vein thrombosis. Am J Med Sci. 2011 May. 341(5):417-9. [QxMD MEDLINE Link].

10. Raben N, Sherman JB. Mutations in muscle phosphofructokinase gene. Hum Mutat. 1995. 6 (1):1-6. [QxMD MEDLINE Link].

11. Musumeci O, Bruno C, Mongini T, Rodolico C, Aguennouz M, Barca E, et al. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord. 2012 Apr. 22(4):325-30. [QxMD MEDLINE Link].

12. Raben N, Sherman J, Miller F, Mena H, Plotz P. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J Biol Chem. 1993 Mar 5. 268 (7):4963-7. [QxMD MEDLINE Link].

13. Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve. 1992 Apr. 15 (4):455-8. [QxMD MEDLINE Link].

14. Al-Hassnan ZN, Al Budhaim M, Al-Owain M, Lach B, Al-Dhalaan H. Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. J Child Neurol. 2007 Jan. 22 (1):106-8. [QxMD MEDLINE Link].

15. Wu PL, Yang YN, Tey SL, Yang CH, Yang SN, Lin CS. Infantile form of muscle phosphofructokinase deficiency in a premature neonate. Pediatr Int. 2015 Aug. 57 (4):746-9. [QxMD MEDLINE Link].

16. Haller RG, Lewis SF. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med. 1991 Feb 7. 324 (6):364-9. [QxMD MEDLINE Link].

17. Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology. 2004 Jan 13. 62(1):82-6. [QxMD MEDLINE Link].

18. Sivakumar K, Vasconcelos O, Goldfarb L, Dalakas MC. Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation. Neurology. 1996 May. 46 (5):1337-42. [QxMD MEDLINE Link].

19. Danon MJ, Servidei S, DiMauro S, Vora S. Late-onset muscle phosphofructokinase deficiency. Neurology. 1988 Jun. 38 (6):956-60. [QxMD MEDLINE Link].

20. Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology. 2004 Jan 13. 62(1):82-6. [QxMD MEDLINE Link].

21. Exantus J, Ranchin B, Dubourg L, et al. Acute renal failure in a patient with phosphofructokinase deficiency. Pediatr Nephrol. 2004 Jan. 19(1):111-3. [QxMD MEDLINE Link].

22. Finsterer J, Stollberger C, Kopsa W. Neurologic and cardiac progression of glycogenosis type VII over an eight-year period. South Med J. 2002 Dec. 95(12):1436-40. [QxMD MEDLINE Link].

23. Finsterer J, Stollberger C. Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease). Cardiology. 2008. 110(4):238-40. [QxMD MEDLINE Link].

24. Zingone A, Hiraiwa H, Pan CJ. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem. 2000 Jan 14. 275(2):828-32. [QxMD MEDLINE Link].

25. Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999 Nov. 189(3):416-24. [QxMD MEDLINE Link].

26. Reason SL, Godfrey RJ. The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII. Curr Opin Endocrinol Diabetes Obes. 2020 Oct. 27 (5):283-290. [QxMD MEDLINE Link].

27. Similä ME, Auranen M, Piirilä PL. Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII). Front Neurol. 2020. 11:57. [QxMD MEDLINE Link].

Natapat Chaisidhivej, MD Resident Physician, Department of Internal Medicine, Einstein Medical Center Philadelphia

Natapat Chaisidhivej, MD is a member of the following medical societies: American Gastroenterological Association, American College of Gastroenterology, American College of Physicians, Medical Council of Thailand

Disclosure: Nothing to disclose.

Catherine Anastasopoulou, MD, PhD, FACE Associate Professor of Medicine, The Steven, Daniel and Douglas Altman Chair of Endocrinology, Sidney Kimmel Medical College of Thomas Jefferson University; Einstein Endocrine Associates, Einstein Medical Center

Catherine Anastasopoulou, MD, PhD, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists, American Society for Bone and Mineral Research, Endocrine Society, Philadelphia Endocrine Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for Physician Leadership, American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society, International Society for Clinical Densitometry, Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

David M Klachko, MD, MEd Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of Missouri-Columbia School of Medicine

David M Klachko, MD, MEd is a member of the following medical societies: Alpha Omega Alpha, Missouri State Medical Association, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Wayne E Anderson, DO, FAHS, FAAN Assistant Professor of Internal Medicine/Neurology, College of Osteopathic Medicine of the Pacific Western University of Health Sciences; Clinical Faculty in Family Medicine, Touro University College of Osteopathic Medicine; Clinical Instructor, Departments of Neurology and Pain Management, California Pacific Medical Center

Wayne E Anderson, DO, FAHS, FAAN is a member of the following medical societies: American Academy of Neurology, American Headache Society, California Medical Association, California Neurology Society, International Headache Society, San Francisco Medical Society, San Francisco Neurological Society

Disclosure: Nothing to disclose.

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