Genetics of Glycogen-Storage Disease Type VII Differential Diagnoses
- Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Bruce Buehler, MD more...
Tarui S, Okuno G, Ikura Y, et al. Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis. Biochem Biophys Res Commun. May 3 1965;19:517-23. [Medline].
Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myol. Oct 2007;26(2):105-7. [Medline].
Nakajima H, Raben N, Hamaguchi T, Yamasaki T. Phosphofructokinase deficiency; past, present and future. Curr Mol Med. Mar 2002;2(2):197-212. [Medline].
Haller RG, Lewis SF. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med. Feb 7 1991;324(6):364-9. [Medline].
Ono A, Kuwajima M, Kono N, Mineo I, Nakagawa C, Tarui S, et al. Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII. Neurology. Jan 1995;45(1):161-4. [Medline].
Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. N Engl J Med. Dec 25 2003;349(26):2503-9. [Medline].
Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology. Jan 13 2004;62(1):82-6. [Medline].
Di Mauro S. Muscle glycogenoses: an overview. Acta Myol. Jul 2007;26(1):35-41. [Medline]. [Full Text].
Madhoun MF, Maple JT, Comp PC. Phosphofructokinase deficiency and portal and mesenteric vein thrombosis. Am J Med Sci. May 2011;341(5):417-9. [Medline].
Amit R, Bashan N, Abarbanel JM, et al. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve. 1992;14:455-458. [Medline].
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. [Medline].
Raben N, Sherman JB. Mutations in muscle phosphofructokinase gene. Hum Mutat. 1995;6(1):1-6. [Medline].
Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep. Mar 2010;10(2):118-26. [Medline]. [Full Text].
Chen YT. Glycogen storage diseases. In: Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. 8th. New York, NY: McGraw-Hill Professionals; 2001:1521-51.
Danon MJ, Carpenter S, Manaligod JR, Schliselfeld LH. Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. Neurology. Oct 1981;31(10):1303-7. [Medline].
Danon MJ, Servidei S, DiMauro S, Vora S. Late-onset muscle phosphofructokinase deficiency. Neurology. Jun 1988;38(6):956-60. [Medline].
Exantus J, Ranchin B, Dubourg L, et al. Acute renal failure in a patient with phosphofructokinase deficiency. Pediatr Nephrol. Jan 2004;19(1):111-3. [Medline].
Finsterer J, Stollberger C, Kopsa W. Neurologic and cardiac progression of glycogenosis type VII over aneight-year period. South Med J. Dec 2002;95(12):1436-40. [Medline].
Guibaud P, Carrier H, Mathieu M, et al. [Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]. Arch Fr Pediatr. Dec 1978;35(10):1105-15. [Medline].
Haller RG, Vissing J. Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. Arch Neurol. Sep 2002;59(9):1395-402. [Medline].
Hays AP, Hallett M, Delfs J, et al. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology. Sep 1981;31(9):1077-86. [Medline].
Mineo I, Kono N, Hara N, et al. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med. Jul 9 1987;317(2):75-80. [Medline].
Servidei S, Bonilla E, Diedrich RG, et al. Fatal infantile form of muscle phosphofructokinase deficiency. Neurology. Nov 1986;36(11):1465-70. [Medline].

