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Glycogen Storage Disease Type VII (Tarui's Disease)

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An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Also Known As:

Tarui's Disease; Deficiency, Muscle Phosphofructokinase; Muscle Phosphofructokinase Deficiency; Deficiencies, Muscle Phosphofructokinase; Disease, Tarui; Disease, Tarui's; Muscle Phosphofructokinase Deficiencies; Phosphofructokinase Deficiencies, Muscle; Phosphofructokinase Deficiency, Muscle; Taruis Disease; Glycogenosis 7; Tarui Disease

Networked: 29 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease Type V (McArdle's Disease)
2.	Glycogen Storage Disease (Glycogenosis)
3.	Gilbert Disease
4.	Glycogen Storage Disease Type VII (Tarui's Disease)
5.	Hyperuricemia

Experts

1.	Waldenström, A: 2 articles (01/2001 - 01/2001)
2.	Ronquist, G: 2 articles (01/2001 - 01/2001)
3.	Engström, I: 2 articles (01/2001 - 01/2001)
4.	Schöneberg, Torsten: 1 article (10/2012)
5.	Kirchberger, Jürgen: 1 article (10/2012)
6.	Brüser, Antje: 1 article (10/2012)
7.	Bruno, Claudio: 1 article (04/2012)
8.	Aguennouz, M'hammed: 1 article (04/2012)
9.	Barca, Emanuele: 1 article (04/2012)
10.	Rodolico, Carmelo: 1 article (04/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type VII:

1.	Glucagon (Glukagon)FDA Link 09/01/1984 - "Pretreatment with glucagon relieved patients with McArdle disease from muscular symptoms during exercise and enhanced exercise performance, though it did not produce any improvement in patients with Tarui disease. " 09/01/1984 - "A comparative study on glucagon effect between McArdle disease and Tarui disease." 09/01/1984 - "In addition, the semi-ischemic forearm exercise tests performed after glucagon injection showed that increased lactate production was significantly induced by exercise in McArdle disease, but it was not the case in Tarui disease. "
2.	Glucuronosyltransferase (UDP Glucuronosyltransferase)IBA 06/01/1990 - "Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome): a case and family study."
3.	Insulin (Novolin)FDA Link 08/01/1999 - "To evaluate a possible link between inherited PFK1-M deficiency in humans (Tarui's disease or glycogenosis type VII) and altered insulin oscillations, in vivo studies were performed. "
4.	GlycogenIBA 01/01/2008 - "Progression of Tarui's disease may manifest as progressive thickening of the heart valves due to glycogen storage. " 06/01/1990 - "Tarui disease is a rare, genetically determined glycogen storage myopathy caused by the total lack of phosphofructokinase (PFK) enzymatic activity in the muscles and partially deficient enzymatic activity in the erythrocytes. " 04/01/2012 - "Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. " 01/13/2004 - "Muscle phosphofructokinase deficiency (PFKD) blocks the metabolism of muscle glycogen and blood glucose. " 01/01/1995 - "Although this pathophysiological condition has been observed not only in glycolytic defects but also in mitochondrial diseases affecting lipid and carbohydrate oxidation, it is most common and prominent in muscle phosphofructokinase deficiency, in which neither glycogen nor glucose can be used as metabolic fuels. "
5.	Phosphofructokinase-1 (Phosphofructokinase 1)IBA 10/12/2012 - "Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease." 03/01/1992 - "Developmental changes of 6-phosphofructo-1-kinase subunit levels in erythrocytes from normal dogs and dogs affected by glycogen storage disease type VII." 01/01/1991 - "6-Phosphofructo-1-kinase (PFK) activity in the brain of a dog affected by glycogen storage disease type VII was only 31% of the PFK activity in the normal dog brain. " 01/01/1991 - "Presence of a truncated M-type subunit and altered kinetic properties of 6-phosphofructo-1-kinase isozymes in the brain of a dog affected by glycogen storage disease type VII."
6.	Glucose (Dextrose)FDA LinkGeneric 09/01/1996 - "Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency." 01/01/1995 - "Glucose infusion therefore accelerates the energy crisis in working muscle of patients with glycogen storage disease type VII, probably due to a decrease in fatty acid utilization." 01/01/1995 - "We investigated the effect of glucose infusion on adenosine triphosphate degradation in skeletal muscle of patients with glycogen storage disease type VII. Three patients and six healthy subjects exercised on a bicycle ergometer twice, once with 20% glucose infusion and once with saline infusion. " 01/01/1995 - "Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII." 01/01/1995 - "Although this pathophysiological condition has been observed not only in glycolytic defects but also in mitochondrial diseases affecting lipid and carbohydrate oxidation, it is most common and prominent in muscle phosphofructokinase deficiency, in which neither glycogen nor glucose can be used as metabolic fuels. "
7.	CalciumIBA 01/01/2001 - "We conclude that erythrocytes from patients with Tarui's disease have an increased Ca2+ permeability, initiating compensatory mechanisms involving increased Ca2+ pump activity and increased glycolytic flux, which are not always sufficient to keep erythrocyte calcium ion concentration within physiological range." 01/01/2001 - "To establish by flow cytometry and fluorophores an increased calcium ion load in erythrocytes of four patients with Tarui's disease. " 01/01/2001 - "To critically evaluate whether an altered calcium homeostasis in erythrocytes could be contributing to the symptomatology of the Tarui's disease, which is an inherited phosphofructokinase (PFK) deficiency of the muscle isoenzyme. " 04/12/2005 - "Erythrocyte AMP deaminase [isoform E (AMPD3)] is activated in response to increased intracellular calcium levels in Tarui's disease, following exposure of ionophore-treated cells to extracellular calcium, and by the addition of calcium to freshly prepared hemolysates. "
8.	Myophosphorylase deficiencyIBA 10/01/1989 - "First we performed magnetic resonance imaging (MRI) of the extremities as a screening test for the detection of muscle abnormalities incurred in activities of daily living in four patients with myophosphorylase deficiency (MPD) and three with muscle phosphofructokinase deficiency (PFKD). " 01/01/2000 - "The clinical manifestations may resemble myophosphorylase deficiency (McArdle's disease: glycogenosis Type V) and muscle phosphofructokinase deficiency (Tarui's disease: glycogenosis Type VII). " 12/01/1980 - "Iodoacetate inhibition of glyceraldehyde-3-phosphate dehydrogenase as a model of human myophosphorylase deficiency (McArdle's disease) and phosphofructokinase deficiency (Tarui's disease)."
9.	Lactic Acid FDA LinkGeneric 09/01/1984 - "In addition, the semi-ischemic forearm exercise tests performed after glucagon injection showed that increased lactate production was significantly induced by exercise in McArdle disease, but it was not the case in Tarui disease. " 08/01/1985 - "Basal lactate concentrations lowered in every patient with glycogen storage disease type V or type VII. Two patients with glycogen storage disease type VII, who had markedly elevated concentrations of serum uric acid (14.3 and 11.9 mg/dl, respectively), showed high basal concentrations of ammonia (118 and 79 mumol/liter, respectively; 23 +/- 4 mumol/liter in healthy controls) and of hypoxanthine (23.4 and 20.4 mumol/liter, respectively; 2.0 +/- 0.4 mumol/liter in healthy controls). "
10.	Uric Acid (Urate)IBA 01/01/1986 - "Increased plasma uric acid after exercise in muscle phosphofructokinase deficiency." 08/01/1985 - "Basal lactate concentrations lowered in every patient with glycogen storage disease type V or type VII. Two patients with glycogen storage disease type VII, who had markedly elevated concentrations of serum uric acid (14.3 and 11.9 mg/dl, respectively), showed high basal concentrations of ammonia (118 and 79 mumol/liter, respectively; 23 +/- 4 mumol/liter in healthy controls) and of hypoxanthine (23.4 and 20.4 mumol/liter, respectively; 2.0 +/- 0.4 mumol/liter in healthy controls). "

Therapies and Procedures

1.	Activities of Daily Living (ADL) 10/01/1989 - "First we performed magnetic resonance imaging (MRI) of the extremities as a screening test for the detection of muscle abnormalities incurred in activities of daily living in four patients with myophosphorylase deficiency (MPD) and three with muscle phosphofructokinase deficiency (PFKD). "