Glycogen storage disease type VII

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Glycogen storage disease type VII
ICD-10 E74.0
ICD-9 271.0
OMIM 232800
DiseasesDB 5314
MeSH D006014

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Feham Tariq, MD [2]

Synonyms and keywords:

Overview

Glycogen storage disease type VII (Tarui's disease) is a rare autosomal recessive disease, clinically characterized by early exercise intolerance which manifests during childhood, with muscle pain and myoglobinuria after exercise or sternous exercise. In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance. GSD type VII is caused by mutation of phosphofructokinase gene located at 12q13 for the M(muscle isoform) that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.

Historical Perspective

The historical perspective of the glycogen storage disease type VII is as follows:[1][2][3][4][5][6][7]

  • In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance.
  • In 1967, Layer et al suggested autosomal recessive inheritence of the disease by detecting the disease in a 18 year old male.
  • Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease.
  • In 1980, Vora et al studied a patient with myopathy and hemolysis which were assosciated with PFK deficiency.
  • In 1983 Tani et al studied two Japanese with congenital nonspherocytic hemolytic anemia and mild myopathy, having erythrocyte PFK deficiency.

Classification

There is no established classification of glycogen storage disease type VII.

Pathophysiology

  • PFKM gene signals to make the PFKM subunit of an enzyme called phosphofructokinase, which plays a key role in the metabolism of the glycogen.
  • The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues.
  • Different tissues have different combinations of these four subunits of phosphofructokinase enzyme.
  • In skeletal muscles where the main source of energy is stored glycogen, the phosphofructokinase enzyme is solely composed of the PFKM subunits.
  • To maintain normal blood sugar levels between meals or during exercise, glycogen is metabolized rapidly into the when energy is needed.
  • Phosphofructokinase is involved in the above-mentioned chain of events that metabolizes glycogen to provide energy to muscle cells.
  • The mutations of the PFKM gene results in non-functional or dysfunctional PFKM subunits.
  • As a result, no functional phosphofructokinase is formed in skeletal muscles, and glycogen cannot be metabolized completely resulting in the accumulation of the partially metabolized glycogen in the skeletal muscle cells.
  • If these skeletal muscles are put to a moderate strain such as exercise, cramping ensues as these muscles do not have access to glycogen as an energy source.
  • In other tissues, other subunits that make up the phosphofructokinase enzyme likely compensate for the lack of PFKM subunits, and the enzyme is able to retain some function, this compensation may help explain why other tissues are not affected by PFKM gene mutations.

Genetics

  • Glycogen storage disease type VII is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[9][10][11]
  • Disease manifests when there is a mutation in the gene for M(muscle isoform), L(liver isoform) and P(platelet isoform) of phosphofructokinase enzyme.[12][13][14][15][16]
  • A variety of mutations can occur, one of which is alteration of splice site leading to exon skipping and single nucleotide mutation leading to 95% of causes of glycogen storage disease type VII.[17][18][19][14]
  • Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.
  • The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
  • If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
  • The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy.
  • The risk to have a child who is a carrier like the parents is 50% with each pregnancy.
  • The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
  • Consanguineous marriages have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Microscopic findings

The following changes are seen in the muscle on muscle biopsy:[20][3][21]

Muscle biopsy:

  • Muscle fiber necrosis
  • Increased variation in the fibre size
  • Ring fibers
  • Endomyosial fibrosis
  • Moderate excess of subsarcolemmal glycogen accumulation on periodic acid-schiff(PAS) staining.
  • In 10% of muscle fibers, diastase-resistant, long filamentous inclusions are seen.
  • Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled amylopectin.
  • The abnormal polysaccharide in PFK deficiency may be related to greatly elevated concentration of muscle glucose-6-phosphate, an activator of the chain-elongating enzyme glycogen synthase.

Causes

Differentiating Glycogen Storage Disease Type VII from Other Diseases

Number Enzyme deficiency Eponym Incidence Hypo-
glycemia?		 Hepato-
megaly?		 Hyperlip-
idemia?		 Muscle symptoms Development/ prognosis Other symptoms
GSD type I glucose-6-phosphatase von Gierke's disease 1 in 50,000[23]- 100,000[24] births Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia
GSD type II acid maltase Pompe's disease 1 in 60,000- 140,000 births[25] No Yes No Muscle weakness *Death by age ~2 years (infantile variant) heart failure
GSD type III glycogen debrancher Cori's disease or Forbes' disease 1 in 100,000 births Yes Yes Yes Myopathy
GSD type IV glycogen branching enzyme Andersen disease No Yes,
also
cirrhosis		 No None Failure to thrive, death at age ~5 years
GSD type V muscle glycogen phosphorylase McArdle disease 1 in 100,000[26] No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria
GSD type VI liver glycogen phosphorylase Hers' disease 1 in 65,000- 85,000 births[27] Yes Yes No None
GSD type VII muscle phosphofructokinase Tarui's disease No No No Exercise-induced muscle cramps and weakness growth retardation Haemolytic anaemia
GSD type IX phosphorylase kinase, PHKA2 - Yes No Yes None Delayed motor development, Growth retardation
GSD type XI glucose transporter, GLUT2 Fanconi-Bickel syndrome Yes Yes No None
GSD type XII Aldolase A Red cell aldolase deficiency ? ? ? Exercise intolerance, cramps
GSD type XIII β-enolase - ? ? ? Exercise intolerance, cramps Increasing intensity of myalgias over decades[28] Serum CK: Episodic elevations; Reduced with rest[28]
GSD type 0 glycogen synthase - Yes No No Occasional muscle cramping

Epidemiology and Demographics

The epidemiology and demographics of the Glycogen storage disease type VII are as follows:[29][15][30]

  • Glycogen storage disease type VII is considered a rare condition; however, more than 100 cases have been found in the literature.
  • The incidence of Glycogen storage disease type VII is 2.3 children per 100,000 births per year.
  • Glycogen storage disease type VII commonly affects children, all patients of reported cases died by age 4 years.
  • Glycogen storage disease type VII usually affects individuals of the Japanese and Ashkenazi Jewish descent.
  • Some disease-causing mutations have been found in the PFK-M gene in Italian, French Canadian, and Swiss patients.
  • Glycogen storage disease type VII affects men and women equally.

Risk Factors

  • Consanguineous marriages have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Screening

  • There is insufficient evidence to recommend routine screening for Tarui's disease.
  • The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.

Natural History, Complications, and Prognosis

Common complications of Tarui's disease include:

Diagnosis

Diagnostic study of choice

History and Symptoms

The hallmark of glycogen storage disease type VII is muscle exercise intolerance.[33]

The most common symptoms of glycogen storage disease type VII include: [1][34][35][14]

Historical features Common symptoms Less common symptoms
  • Muscle weakness following a high carbohydrate meal
  • Muscle exercise intolerance
  • Slowly progressive limb weakness with or without myoglobinuria or cramps

Less common symptoms of glycogen storage disease type VII include:

Physical Examination

Physical examination of patients with glycogen storage disease type VII is usually remarkable for:[36][37][38]

Physical examination findings
Neuromuscular Cardiovascular Ophthalmology
Corneal opacity

Laboratory Findings

The following laboratory findings are seen in glycogen storage disease type VII:[39][40][41][42]

More common findings

Less common findings

Laboratory findings
More common findings Less common findings
Laboratory findings seen after exercise

High concentrations of:

Electrocardiogram

There are no ECG findings associated with glycogen storage disease type VII.

X-ray

There are no x-ray findings associated with glycogen storage disease type VII.

Echocardiography or Ultrasound

Ultrasound abdomen may be helpful in the diagnosis of hepatomegaly.

CT scan

There are no CT scan findings associated with glycogen storage disease type VII.

MRI

There are no MRI findings associated with glycogen storage disease type VII.

Other Imaging Findings

There are no other imaging findings associated with glycogen storage disease type VII.

Other Diagnostic Studies

Treatment

Medical Therapy

  • There is no medical treatment for glycogen storage disease type 7.
  • The mainstay of therapy is supportive care.

Surgery

  • Surgical intervention is not recommended for the management of glycogen storage disease type 7.

Primary Prevention

  • Genetic counseling: Genetic counseling should be offered to all parents with a child with GSD type 7 and to all adults with GSD type 7.
  • Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when PFK mutation is known. Mutation analysis is performed either on cultured chorionic villus samples or amniocytes.
  • Screening: The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.

Secondary Prevention

Effective measures for the secondary prevention of glycogen storage disease type VII include:[43][44]

  • Avoidance of strenuous exercise
  • High carbohydrate meal: Consumption of high carbohydrate meal should be avoided before exercise.
  • Ketogenic diet

References

  1. ↑ 1.0 1.1 TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M (1965). "PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS". Biochem. Biophys. Res. Commun. 19: 517–23. PMID 14339001.
  2. ↑ Toscano A, Musumeci O (2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol. 26 (2): 105–7. PMC 2949577. PMID 18421897.
  3. ↑ 3.0 3.1 Lin HC, Young C, Wang PJ, Shen YZ (1999). "Muscle phosphofructokinase deficiency (Tarui's disease): report of a case". J Formos Med Assoc. 98 (3): 205–8. PMID 10365541.
  4. ↑ Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr Mol Med. 2 (2): 197–212. PMID 11949936.
  5. ↑ Satoyoshi E, Kowa H (1967). "A myopathy due to glycolytic abnormality". Arch Neurol. 17 (3): 248–56. PMID 4228753.
  6. ↑ Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S (1980). "The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy". Blood. 55 (4): 629–35. PMID 6444532.
  7. ↑ Tani K, Fujii H, Takegawa S, Miwa S, Koyama W, Kanayama M; et al. (1983). "Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan". Am J Hematol. 14 (2): 165–74. PMID 6220601.
  8. ↑ Nakajima H, Hamaguchi T, Yamasaki T, Tarui S (1995). "Phosphofructokinase deficiency: recent advances in molecular biology". Muscle Nerve Suppl. 3: S28–34. PMID 7603524.
  9. ↑ Howard, Timothy D.; Akots, Gita; Bowden, Donald W. (1996). "Physical and Genetic Mapping of the Muscle Phosphofructokinase Gene (PFKM): Reassignment to Human Chromosome 12q". Genomics. 34 (1): 122–127. doi:10.1006/geno.1996.0250. ISSN 0888-7543.
  10. ↑ Vestergaard H (1999). "Studies of gene expression and activity of hexokinase, phosphofructokinase and glycogen synthase in human skeletal muscle in states of altered insulin-stimulated glucose metabolism". Dan Med Bull. 46 (1): 13–34. PMID 10081651.
  11. ↑ Inal Gultekin, G.; Raj, K.; Lehman, S.; Hillström, A.; Giger, U. (2012). "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog". Molecular and Cellular Probes. 26 (6): 243–247. doi:10.1016/j.mcp.2012.02.004. ISSN 0890-8508.
  12. ↑ Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S (1986). "Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody". Hum Genet. 74 (1): 34–40. PMID 2944814.
  13. ↑ Vora S, Miranda AF, Hernandez E, Francke U (1983). "Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes". Hum Genet. 63 (4): 374–9. PMID 6222962.
  14. ↑ 14.0 14.1 14.2 Raben N, Sherman JB (1995). "Mutations in muscle phosphofructokinase gene". Hum Mutat. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225.
  15. ↑ 15.0 15.1 Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N (1996). "Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions". Am J Hum Genet. 59 (1): 59–65. PMC 1915105. PMID 8659544.
  16. ↑ Vora S (1983). "Isozymes of human phosphofructokinase: biochemical and genetic aspects". Isozymes Curr Top Biol Med Res. 11: 3–23. PMID 6227585.
  17. ↑ 17.0 17.1 Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P (1995). "Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)". Muscle Nerve Suppl. 3: S35–8. PMID 7603525.
  18. ↑ Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM; et al. (1994). "Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency". Am J Hum Genet. 55 (2): 305–13. PMC 1918380. PMID 8037209.
  19. ↑ Dunaway GA (1983). "A review of animal phosphofructokinase isozymes with an emphasis on their physiological role". Mol Cell Biochem. 52 (1): 75–91. PMID 6306441.
  20. ↑ Bonilla E, Schotland DL (1970). "Histochemical diagnosis of muscle phosphofructokinase deficiency". Arch Neurol. 22 (1): 8–12. PMID 4243256.
  21. ↑ Hays AP, Hallett M, Delfs J, Morris J, Sotrel A, Shevchuk MM; et al. (1981). "Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy". Neurology. 31 (9): 1077–86. PMID 6943439.
  22. ↑ Howard TD, Akots G, Bowden DW (1996). "Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q". Genomics. 34 (1): 122–7. doi:10.1006/geno.1996.0250. PMID 8661033.
  23. ↑
  24. ↑ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD This page was created in October 2006.
  25. ↑
  26. ↑ http://mcardlesdisease.org/
  27. ↑ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
  28. ↑ 28.0 28.1 http://neuromuscular.wustl.edu/msys/glycogen.html#enolase
  29. ↑ Haller RG, Vissing J (2004). "No spontaneous second wind in muscle phosphofructokinase deficiency". Neurology. 62 (1): 82–6. PMID 14718702.
  30. ↑ Scrocchi LA, Jones LA (1991). "Alteration of proto-oncogene c-fos expression in neonatal estrogenized BALB/c female mice & murine cervicovaginal tumor LJ6195". Endocrinology. 129 (4): 2251–3. doi:10.1210/endo-129-4-2251. PMID PMC1915105 MCID: PMC1915105 Check |pmid= value (help).
  31. ↑ Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S; et al. (2015). "PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry". Neurol Genet. 1 (1): e7. doi:10.1212/NXG.0000000000000007. PMC 4821086. PMID 27066546.
  32. ↑ Argov Z, Barash V, Soffer D, Sherman J, Raben N (1994). "Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?". Neurology. 44 (6): 1097–100. PMID 8208408.
  33. ↑ Brüser A, Kirchberger J, Schöneberg T (2012). "Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease". Biochem Biophys Res Commun. 427 (1): 133–7. doi:10.1016/j.bbrc.2012.09.024. PMID 22995305.
  34. ↑ Layzer RB, Rowland LP, Ranney HM (1967). "Muscle phosphofructokinase deficiency". Arch Neurol. 17 (5): 512–23. PMID 4228297.
  35. ↑ Danon MJ, Servidei S, DiMauro S, Vora S (1988). "Late-onset muscle phosphofructokinase deficiency". Neurology. 38 (6): 956–60. PMID 2966901.
  36. ↑ Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M’hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio (2012). "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)". Neuromuscular Disorders. 22 (4): 325–330. doi:10.1016/j.nmd.2011.10.022. ISSN 0960-8966.
  37. ↑ Servidei S, Bonilla E, Diedrich RG, Kornfeld M, Oates JD, Davidson M; et al. (1986). "Fatal infantile form of muscle phosphofructokinase deficiency". Neurology. 36 (11): 1465–70. PMID 2945125.
  38. ↑ Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S (1992). "Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency". Muscle Nerve. 15 (4): 455–8. doi:10.1002/mus.880150406. PMID 1533013.
  39. ↑ Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M; et al. (1987). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". N Engl J Med. 317 (2): 75–80. doi:10.1056/NEJM198707093170203. PMID 3473284.
  40. ↑ Mineo I, Kono N, Shimizu T, Hara N, Yamada Y, Sumi S; et al. (1985). "Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII". J Clin Invest. 76 (2): 556–60. doi:10.1172/JCI112006. PMC 423860. PMID 3861621.
  41. ↑ Yamasaki T, Hamaguchi T, Nakajima H, Matsuzawa Y (1996). "[Myogenic hyperuricemia]". Nihon Rinsho. 54 (12): 3343–8. PMID 8976117.
  42. ↑ Mineo I, Tarui S (1995). "Myogenic hyperuricemia: what can we learn from metabolic myopathies?". Muscle Nerve Suppl. 3: S75–81. PMID 7603532.
  43. ↑ Swoboda, Kathryn J.; Specht, Linda; Jones, H.Royden; Shapiro, Frederic; DiMauro, Salvatore; Korson, Mark (1997). "Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet". The Journal of Pediatrics. 131 (6): 932–934. doi:10.1016/S0022-3476(97)70048-9. ISSN 0022-3476.
  44. ↑ Fujii H, Miwa S (2000). "Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency". Baillieres Best Pract Res Clin Haematol. 13 (1): 141–8. PMID 10916683.


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