Glycogen storage disease type VII

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Feham Tariq, MD [2], Anmol Pitliya, M.B.B.S. M.D.[3]

Synonyms and Keywords: Tarui's disease; glycogen storage disease type 7; GSD type VII; phosphofructokinase deficiency; muscle phosphofructokinase deficiency

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 strenuous 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 non-spherocytic hemolytic anemia and mild myopathy, having erythrocyte PFK deficiency.

Classification

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

Pathophysiology

Pathogenesis

Metabolic Pathway

Metabolic pathways showing defects in glycogen storage disease VII, (ɔ) Image courtesy of WikiDoc.org, by "Dr. Anmol Pitliya"

Genetics

Microscopic findings

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

Causes

Differentiating Glycogen Storage Disease Type VII from Other Diseases

Differentiating Glycogen Storage Diseases
Glycogen storage disease Enzyme deficiency Genetics History and symptoms Physical examination Laboratory findings Imaging Other features
Gene mutation Inheritance Chromosome Hypoglycemia Muscle weakness Hypotonia Hepatomegaly Elevated CK Cardiomegaly
Glycogen storage disease type I[23][24][25][26][27][28] Von Gierke's disease GSD type Ia Glucose-6-phosphatase G6PC gene mutation  Autosomal recessive 17q21 + + + + - -
GSD type Ib  Microsomal glucose-6-phosphate transporter  SLC37A4 gene mutation Autosomal recessive 11q23
Glycogen storage disease type II[29][30][31][32][33][34][35][36][37] Pompe disease Infantile onset Acid alpha-glucosidase GAA gene Autosomal recessive 17q25 - + + + + +
  • Elevated LDH
  • Elevated liver aminotransferases
  • Elevated urinary glc4
Late onset Autosomal recessive - + + + + +/-
Glycogen storage disease type III[38][39][40][41][42][43] Cori disease GSD type IIIa Debranching enzyme (deficiency in muscle and liver) AGL gene mutation  Autosomal recessive 1p21 + + + + + +
GSD type IIIb Debranching enzyme (deficiency in liver only) Autosomal recessive
Glycogen storage disease type IV[44][45][46][47][48] Andersen's disease Branching enzyme  GBE1 gene mutation Autosomal recessive 3p12 +/- + + + + + -
Glycogen storage disease type V[49][50][51][52][53][54][55] McArdle disease Muscle glycogen phosphorylase PYGM gene mutation Autosomal recessive 11q13 - + - - + -
Glycogen storage disease type VI[56][57][58][59][60] Hers' disease Autosomal Liver glycogen phosphorylase  PYGL gene mutation Autosomal recessive 14q22 +/- + +/- + - -
X-linked  PYGL gene mutation X-linked recessive X
Glycogen storage disease type VII[14][1][61][5][62][6] Tarui's disease Muscle phosphofructokinase PFKM gene mutation Autosomal recessive 12q13 + + - - + +
Glycogen storage disease type IX[63][57][64] GSD type IXa[65][66][67][68][69] Phosphorylase b kinase (deficiency in liver only) PHKA2 gene mutation X-linked recessive Xp22 + - - + - -
GSD type IXb[70][71][72] Phosphorylase b kinase (deficiency in liver and muscle) PHKB gene mutation Autosomal recessive 16q12 + - - + - -
Glycogen storage disease type X[73][74][75][76] Phosphoglycerate mutase PGAM2 gene mutation Autosomal recessive 7p13 - - - - + -
Glycogen storage disease type XI[77][78][79][80] Lactate dehydrogenase A deficiency Lactate dehydrogenase A LDHA gene mutation Autosomal recessive 11p15 - - - - + -
Glycogen storage disease type XII[81][82][83][84] Aldolase A deficiency Aldolase A ALDOA gene mutation Autosomal recessive 16p11 - + - + - -
Glycogen storage disease type XIII[85] Beta-enolase  ENO3 gene mutation Autosomal recessive 17p13 - + - - + - -
Glycogen storage disease type XIV[86][87] Phosphoglucomutase type 2 PGM1 gene mutation Autosomal recessive 1p31 +/- + - - + -
  • Elevated liver aminotransferases
Glycogen storage disease type 0[88][89][90][91] Lewis' disease Hepatic glycogen synthase GYS2 gene mutation (liver) Autosomal recessive 12p12 + - - - - -

Epidemiology and Demographics

The epidemiology and demographics of the Glycogen storage disease type VII are as follows:[92][15][93]

  • 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

  • The most potent risk factor in the development of glycogen storage disease type VII is a sibling with glycogen storage disease type VII.

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

Complications:

Common complications of glycogen storage disease type VII disease include:[94][95]

Diagnosis

Diagnostic study of choice

History and Symptoms

The hallmark of glycogen storage disease type VII is muscle exercise intolerance.[98]

The specific areas of focus when obtaining patient history include:

  • Muscle weakness following a high carbohydrate meal
  • Muscle exercise intolerance
  • Slowly progressive limb weakness with or without myoglobinuria or cramps

Most common symptoms

The most common symptoms of glycogen storage disease type VII include:[1][61][99][14]

Less common symptoms

Physical Examination

Physical examination of patients with glycogen storage disease type VII is usually remarkable for:[100][101][102]

Neuromuscular

Cardiovascular

Ophthalmology

Laboratory Findings

The following laboratory findings are seen in glycogen storage disease type VII:[103][104][105][106]

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.

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 VII.
  • The mainstay of therapy is supportive care.

Surgery

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

Primary Prevention

  • Genetic counseling: Genetic counseling should be offered to all parents with a child with glycogen storage disease type VII and to all adults with glycogen storage disease type VII.
  • 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:[107][108]

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

References

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