Glycogen storage disease due to muscle phosphofructokinase deficiency

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.


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(per page)
PMID (PMCID)
8659544
 MIXED_SAMPLE Adult
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N.
Am J Hum Genet. 1996;59(1):59-65.
Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome.
8659544
 MIXED_SAMPLE Adult
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N.
Am J Hum Genet. 1996;59(1):59-65.
Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome.
8880699
 MIXED_SAMPLE Adult
Muscle phosphofructokinase deficiency in two generations.
Vorgerd M, Karitzky J, Ristow M, Van Schaftingen E, Tegenthoff M, Jerusalem F, Malin JP.
J Neurol Sci. 1996;141(1-2):95-9.
Patients lacking the muscular isoform of PFK typically present with myopathy and compensated hemolysis (glycogenosis type VII or Tarui's disease).
7479776
 MIXED_SAMPLE Middle Aged
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG.
Proc Natl Acad Sci U S A. 1995;92(22):10322-6.
Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease).
7479776
 MIXED_SAMPLE Middle Aged
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG.
Proc Natl Acad Sci U S A. 1995;92(22):10322-6.
Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease).
8444874
 MIXED_SAMPLE Middle Aged
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
Raben N, Sherman J, Miller F, Mena H, Plotz P.
J Biol Chem. 1993;268(7):4963-7.
A deficiency of the muscle isoform of the enzyme, phosphofructokinase (PFK, EC 2.7.1.11), leads to an illness (glycogenosis, Type VII) characterized by myopathy and hemolysis.
2960695
 MALE
Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.
Vora S, DiMauro S, Spear D, Harker D, Danon MJ.
J Clin Invest. 1987;80(5):1479-85.
Homozygous deficiency of muscle PFK results in the classic glycogen storage disease type VII characterized by exertional myopathy and hemolytic syndrome beginning in early childhood.
6227635
 MALE Adult
Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.
Vora S, Davidson M, Seaman C, Miranda AF, Noble NA, Tanaka KR, Frenkel EP, Dimauro S.
J Clin Invest. 1983;72(6):1995-2006.
To define the molecular basis and pathogenesis of this enzymopathy, we investigated four unrelated individuals manifesting myopathy and hemolysis (glycogenosis type VII), isolated hemolysis, or no symptoms at all.
6444532
 MALE Adult
The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy.
Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S.
Blood. 1980;55(4):629-35.
In the light of these findings, we have investigated the molecular basis of the inherited erythrocyte PFK deficiency associated with myopathy and hemolysis (Tarui disease).