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glycogen storage disease V

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Description

Glycogen Storage Disease Type V (GSDV or McArdle Disease): A Rare Inherited Condition

Glycogen storage disease type V, also known as GSDV or McArdle disease, is a rare inherited condition that affects the body's ability to break down glycogen in muscle cells. Glycogen is an important source of energy stored in all tissues, especially in muscles and liver.

Key Features:

  • Inherited disorder: GSDV is caused by a genetic mutation that leads to a deficiency of the enzyme myophosphorylase.
  • Muscle cell dysfunction: The inability to break down glycogen interferes with muscle cell function, leading to symptoms such as rapid fatigue, myalgia (muscle pain), and cramps during exercise.
  • Exercise intolerance: Individuals with GSDV often experience exercise intolerance, which means they tire easily and quickly during physical activity.

Prevalence:

Glycogen storage disease type V is a rare condition, affecting approximately 1 in 100,000 people worldwide. It is one of the most frequent genetic myopathies (muscle disorders).

Symptoms:

  • Rapid fatigue: Individuals with GSDV often experience rapid fatigue during exercise.
  • Myalgia: Muscle pain or cramps are common symptoms during and after physical activity.
  • Exercise intolerance: The inability to perform sustained aerobic exercise without experiencing symptoms.

References:

[1] Type V (five) glycogen storage disease (GSD V) is a rare inherited condition in which the body is not able to break down glycogen. Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and liver. ... Glycogen storage diseases. In: Inherited Metabolic Diseases. 2019; [1]

[3] Type V glycogen storage disease. Llavero F, Arrazola Sastre A, Luque Montoro M, et al. Mcardle disease: new insights into its underlying molecular mechanisms. Int J Mol Sci. 2019;20(23):5919. doi: [4]

[2] Glycogen storage disease type V (GSD5, GSD-V), also known as McArdle's disease, is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [3]

Additional Characteristics

  • Glycogen storage disease type V
  • GSDV or McArdle Disease
  • Rare Inherited Condition
  • Inability to break down glycogen in muscle cells
  • Rapid fatigue, myalgia (muscle pain), and cramps during exercise
  • Exercise intolerance, tiring easily and quickly during physical activity
  • Glycogen storage disease type V is a rare condition, affecting approximately 1 in 100,000 people worldwide
  • Symptoms: rapid fatigue, muscle pain or cramps, exercise intolerance

Signs and Symptoms

Glycogen storage disease type V (GSDV), also known as McArdle disease, is a metabolic disorder that affects the body's ability to break down glycogen in muscle cells. The signs and symptoms of GSDV can vary significantly in affected individuals.

Common Symptoms:

  • Exercise Intolerance: This is the most common symptom of GSDV, characterized by rapid fatigue, muscle stiffness, and contractures, especially at the start of physical activity.
  • Low Blood Sugar (Hypoglycemia): Some people with GSDV may experience low blood sugar levels, which can lead to symptoms such as shaking or trembling, sweating and chills, dizziness or lightheadedness [1].
  • Muscle Cramps: Painful muscle cramps are a common symptom of GSDV, often occurring after exercise or physical activity.
  • Rapid Heartbeat: Some individuals with GSDV may experience a rapid heartbeat, which can be a sign of the body's attempt to compensate for the lack of energy production in the muscles.

Other Symptoms:

  • Delayed Growth and Development: In some cases, GSDV can lead to delayed growth and development, particularly in children.
  • Enlarged Liver and Kidneys: Enlargement of the liver and kidneys may occur in some individuals with GSDV [6].
  • Impaired Growth and Delayed Puberty: Impaired growth and delayed puberty are also possible symptoms of GSDV [6].

Age of Onset:

  • Symptoms of GSDV can appear at any age, from infancy to late adulthood. However, most people report their first symptoms during their teenage years or early 20s [10].
  • In some cases, symptoms may not appear until later in life, even into the 50s and 60s [14].

It's essential to note that the severity and progression of GSDV can vary significantly from person to person. If you suspect you or a loved one has GSDV, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References:

[1] - Symptoms include: Shaking or trembling. Sweating and chills. Dizziness or lightheadedness. [6] - Enlarged liver and kidneys · Low blood sugar · High levels of lactate, fats, and uric acid in the blood · Impaired growth and delayed puberty · Bone pain [10] - While most people report their first symptoms during their teenage years or early 20s, symptoms of this disease can occur at any time between infancy and late in life. [14] - The physical exam of patients with Type V glycogen storage disease is normal. They complain of painful muscle cramps after exercise.

Diagnostic Tests

Diagnostic Tests for Glycogen Storage Disease Type V

Glycogen storage disease type V (GSDV), also known as McArdle disease, is a rare inherited disorder that affects the body's ability to break down glycogen in muscle cells. Diagnosing GSDV can be challenging, but several tests can help establish the diagnosis.

  • Molecular Genetic Testing: This test involves analyzing DNA samples from an individual to identify pathogenic variants in the PYGM gene, which is responsible for encoding the enzyme myophosphorylase (1). Biallelic PYGM pathogenic variants are a key indicator of GSDV.
  • Muscle Myophosphorylase Enzyme Activity Assay: This test measures the activity of the myophosphorylase enzyme in muscle cells. A deficiency or absence of this enzyme is characteristic of GSDV (1).
  • Serum Creatine Kinase Test: Elevated levels of creatine kinase, a marker of muscle damage, can indicate GSDV (8).
  • Blood Glucose and Cholesterol Tests: Fasting and non-fasting blood glucose levels, as well as cholesterol levels, may be abnormal in individuals with GSDV (8).
  • Liver Enzyme Tests: Liver enzymes such as alanine transaminase (ALT) and aspartate transaminase (AST) may be elevated in some cases of GSDV (8).
  • Muscle Biopsy: A muscle biopsy can help confirm the diagnosis by examining a piece of muscle tissue under a microscope. However, this test is not always necessary and may carry risks (9).

Other Diagnostic Tests

  • Next-Generation Sequencing: This test uses next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with glycogen storage disease, including PYGM (4).
  • Clinical Evaluation: A thorough clinical evaluation by a healthcare provider is essential to rule out other conditions that may mimic GSDV symptoms.

References

  1. Establishing the Diagnosis. The diagnosis of glycogen storage disease type V is established in a proband with suggestive findings and biallelic PYGM pathogenic variants identified on molecular genetic testing (see Table 1) or – if genetic test results are not diagnostic – by assay of muscle myophosphorylase enzyme activity.
  2. Aug 31, 2023 — Testing Strategy · Serum creatine kinase · Blood glucose and cholesterol tests · Liver enzyme tests
  3. Type V glycogen storage disease (GSDV, McArdle's disease) is a metabolic myopathy whose main characteristic is exercise intolerance. ... Normal levels of this marker were noted during times of neutropenia and IBD, resulting in false negative tests . Its value for diagnosis in different clinical settings warrants further study.

Treatment

Current Treatment Options for Glycogen Storage Disease Type V (GSD-V)

Glycogen storage disease type V, also known as McArdle disease, is a genetic disorder that affects the metabolism of glycogen in muscles. While there is no cure for GSD-V, various treatment options are available to manage its symptoms and prevent complications.

Allopurinol

One potential treatment for GSD-V is allopurinol, a medication that can help reduce uric acid levels in the blood. Elevated uric acid levels can contribute to kidney damage and other complications associated with GSD-V [7]. Allopurinol may be prescribed to control symptoms and prevent long-term damage.

Glucagon

Another treatment option for GSD-V is glucagon, a hormone that helps regulate blood sugar levels. Glucagon has been shown to improve exercise tolerance in individuals with GSD-V by increasing glucose availability in the muscles [8]. However, its effectiveness may vary depending on individual circumstances.

Other Treatments

Research has also explored other potential treatments for GSD-V, including creatine supplementation, ramipril, and D-ribose. While some studies suggest modest benefits from these interventions, more research is needed to confirm their efficacy and safety [6][9].

Current Recommendations

The International Association of Muscle Glycogen Storage Disease recommends that individuals with GSD-V avoid intense exercise and follow a personalized treatment plan developed in consultation with a healthcare provider [10]. This may involve a combination of medications, dietary modifications, and lifestyle adjustments to manage symptoms and prevent complications.

References:

[7] - Dec 1, 2022 — Glucagon is used to treat GSD types V and VII. [8] - by R Quinlivan · 2014 · Cited by 169 — The review found no benefit compared with placebo with the following treatments: D‐ribose, glucagon, verapamil, vitamin B6, oral branched chain ... [9] - by R Quinlivan · 2014 · Cited by 169 — The review found no benefit compared with placebo with the following treatments: D‐ribose, glucagon, verapamil, vitamin B6, oral branched chain ... [10] - By an initiative of the International Association of Muscle Glycogen Storage Disease ... potential drug-disease interactions, surgery, and obstetrics. ... Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V) Cochrane Database Syst Rev. 2014; 2014. Crossref. Scopus (27) ...

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Glycogen Storage Disease Type V (GSDV)

Glycogen storage disease type V (GSDV), also known as McArdle's disease, is a metabolic myopathy characterized by exercise intolerance. To accurately diagnose GSDV, it is essential to distinguish it from other glycogen storage disorders and conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis

  • Pompe Disease: A genetic disorder caused by the deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in muscles. Symptoms can include muscle weakness, fatigue, and respiratory problems.
  • Niemann-Pick disease type B: A lysosomal storage disorder characterized by the accumulation of sphingomyelin in cells, leading to symptoms such as liver enlargement, spleen enlargement, and neurological problems.
  • Gaucher disease: A genetic disorder caused by the deficiency of glucocerebrosidase (GCase), leading to the accumulation of glucocerebroside in cells. Symptoms can include anemia, thrombocytopenia, and bone pain.
  • Fatty acid oxidation defects: A group of disorders characterized by impaired fatty acid metabolism, leading to symptoms such as muscle weakness, fatigue, and elevated creatine kinase levels.
  • Impaired mitochondrial function: A condition characterized by impaired energy production in cells, leading to symptoms such as muscle pain, fatigue, and elevated creatine kinase levels.

Key Diagnostic Features

To diagnose GSDV accurately, clinicians should consider the following key features:

  1. Exercise intolerance: Symptoms typically begin with exercise intolerance, manifested by rapid fatigue, myalgia, and cramps in exercising muscles.
  2. Muscle phosphorylase deficiency: The disease is caused by mutations in the gene that encodes muscle phosphorylase.
  3. Autosomal recessive inheritance pattern: GSDV follows an autosomal recessive inheritance pattern.

Diagnostic Tools

The diagnosis of GSDV can be confirmed using various diagnostic tools, including:

  1. Genetic testing: Genetic testing can identify mutations in the gene that encodes muscle phosphorylase.
  2. Muscle biopsy: A muscle biopsy can provide histological evidence of glycogen accumulation in muscles.
  3. Blood tests: Blood tests can help rule out other conditions with similar symptoms.

Conclusion

In conclusion, differential diagnosis of GSDV requires careful consideration of various conditions that may present with similar symptoms. By understanding the key diagnostic features and using appropriate diagnostic tools, clinicians can accurately diagnose GSDV and provide appropriate management and treatment.

Additional Information

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