Glycogen storage disease type V

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

Overview

Glycogen storage disease type V also known as McArdle's disease is caused by the deficiency of myophosphorylase. In 1951, Brian McArdle first described glycogen storage disease type V. It is an autosomal recessive disorder caused by mutation of the gene PYGM which is located on chromosome 11q13. Myophosphorylase is the isozyme of phosphorylase specific to muscles. Its deficiency leads to blockage of carbohydrate metabolic pathways causing accumulation of excess glycogen in the muscles. Muscles are unable to produce energy from glycogen and may lead to rhabdomyolysis. Glycogen storage disease type V commonly affects individuals in the 2nd-3rd decade of their life. There is insufficient evidence to recommend routine screening for glycogen storage disease type V but carrier screening of at-risk relatives may be done. Different individuals present uniquely depending on the severity of enzyme deficiency. Some adults can develop progressive proximal muscle weakness or fixed motor weakness. A "Second-wind phenomenon" can be seen in patients suffering from glycogen storage disease type V. Burgundy-colored urine can be seen after an intense session of exercise due to rhabdomyolysis. On physical examination, persistent weakness and muscle wasting may be seen as the patient ages. Laboratory findings may show elevated levels of creatine kinase levels in almost 90% of patients suffering from glycogen storage disease type V. Forearm exercise test and electromyography are used to diagnose GSD type V. Treatment includes dietary modification and mild to moderate aerobic exercises like walking or bicycling.

Historical Perspective

  • Glycogen storage disease type V was first described by Brian McArdle, a Scottish physician, in 1951.[1]
  • In 1993, the first PYGM pathogenic mutations were described.[2]

Classification

There is no established system for the classification of glycogen storage disease type V.

Pathophysiology

Pathogenesis

Metabolic Pathway

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

Causes

Differentiating Glycogen storage disease type V 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[6][7][8][9][10][11] 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[12][13][14][15][16][17][18][19][20] 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[21][22][23][24][25][26] 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[27][28][29][30][31] Andersen's disease Branching enzyme  GBE1 gene mutation Autosomal recessive 3p12 +/- + + + + + -
Glycogen storage disease type V[1][32][33][34][35][36][37] McArdle disease Muscle glycogen phosphorylase PYGM gene mutation Autosomal recessive 11q13 - + - - + -
Glycogen storage disease type VI[38][39][40][41][42] 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[43][44][45][46][47][48] Tarui's disease Muscle phosphofructokinase PFKM gene mutation Autosomal recessive 12q13 + + - - + +
Glycogen storage disease type IX[49][39][50] GSD type IXa[51][52][53][54][55] Phosphorylase b kinase (deficiency in liver only) PHKA2 gene mutation X-linked recessive Xp22 + - - + - -
GSD type IXb[56][57][58] Phosphorylase b kinase (deficiency in liver and muscle) PHKB gene mutation Autosomal recessive 16q12 + - - + - -
Glycogen storage disease type X[59][60][61][62] Phosphoglycerate mutase PGAM2 gene mutation Autosomal recessive 7p13 - - - - + -
Glycogen storage disease type XI[63][64][65][66] Lactate dehydrogenase A deficiency Lactate dehydrogenase A LDHA gene mutation Autosomal recessive 11p15 - - - - + -
Glycogen storage disease type XII[67][68][69][70] Aldolase A deficiency Aldolase A ALDOA gene mutation Autosomal recessive 16p11 - + - + - -
Glycogen storage disease type XIII[71] Beta-enolase  ENO3 gene mutation Autosomal recessive 17p13 - + - - + - -
Glycogen storage disease type XIV[72][73] Phosphoglucomutase type 2 PGM1 gene mutation Autosomal recessive 1p31 +/- + - - + -
  • Elevated liver aminotransferases
Glycogen storage disease type 0[74][75][76][77] Lewis' disease Hepatic glycogen synthase GYS2 gene mutation (liver) Autosomal recessive 12p12 + - - - - -

Epidemiology and Demographics

  • The prevalence of glycogen storage disease type V is approximately 0.6 in 100,000 individuals in spanish community.[78]
  • The prevalence of glycogen storage disease type V is approximately 1 in 100,000 individuals in Texas, USA.[79]
  • Glycogen storage disease type V commonly affects individuals in the 2nd-3rd decade of life.

Risk Factors

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

Screening

  • There is insufficient evidence to recommend routine screening for glycogen storage disease type V.

Natural History, Complications, and Prognosis

Complications

Prognosis

  • Glycogen storage disease type V is a chronic disorder.

Diagnosis

Diagnostic Study of Choice

Forearm exercise test

  • Forearm exercise test is of 2 types:
  • Normal chemical reactions and products of muscle activity are analysed.
  • One-second handgrips are performed every other second for one minute (approximately 30 contractions)
  • Blood samples are taken to check for lactate, ammonia, and creatine kinase before starting the test and at 1, 2, 4, 6, 10, 20, and 30 minutes after the end of the exercise.
  • A flat venous lactate curve with normal increase in ammonia is diagnostic of myophosphorylase deficiency.
  • Earlier blood pressure cuff was used instead of handgrips, but it was stopped because it lead to more muscle pain and acute compartment syndrome.

Electromyography

  • Electromyography of resting muscle are normal.
  • No electrical activity during contracture is diagnostic of myophosphorylase deficiency.

History and Symptoms

  • Different individuals present uniquely depending on the severity on enzyme deficiency.
  • Some adults can develop:
    • Progressive proximal muscle weakness.
    • Fixed motor weakness.
  •  Second-wind phenomenon:[83]
    • When a patient nearing fatigue slows down the intensity of exercise to a certain level, it can be increased again without recurrence of symptoms.[84]
    • This phenomenon may be due to recruitment of: [85]
  • Burgundy-colored urine can be seen after an intense session of exercise.

Physical Examination

Laboratory Findings

  • Creatine kinase levels are checked in all cases with suspicion of glycogen storage disease.
    • 90% patients suffering from glycogen storage disease type V have elevated levels.
  •  Fasting glucose testing is done to rule out hypoglycemia.
  • Myoglobinuria
    • Urine analysis is done to check for it.
    • It is seen in 50% cases after exercise.
  • Biochemical assay

Other Diagnostic Studies

Muscle Biopsy

Treatment

Medical Therapy

  • Dietary modification
  • Exercise
    • Mild-to-moderate aerobic exercise like walking, bicycling, or stationary cycling, is beneficial.
    • Helps to improve cardiovascular fitness and increases muscle oxidative capacity.
    • Strenuous aerobic exercise should be avoided.[88][89]

Surgery

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

Primary Prevention

External links


References

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