glycogen storage disease VIII

Glycogen Storage Disease Type VIII, also known as GSD VI or Hers' disease, is a rare genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate stored in the liver and muscles.

Key Features:

• X-linked recessive inheritance: The condition is inherited in an X-linked recessive pattern, meaning it primarily affects males.
• Hepatic involvement: GSD VIII is characterized by abnormal storage of glycogen in the liver, leading to hepatomegaly (enlarged liver).
• Mild symptoms: Symptoms are relatively mild compared to other types of glycogen storage diseases.

Clinical Presentation:

• Hepatomegaly
• Increased liver glycogen levels
• Decreased leukocyte phosphorylase activity

Other Information:

GSD VIII is caused by a deficiency in the enzyme phosphorylase-b-kinase, which plays a crucial role in breaking down glycogen. The condition is often diagnosed through genetic testing and liver biopsy.

According to [13], GSD VIII is an x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present.

Please note that the information provided is based on the search results and may not be an exhaustive or definitive description of the condition.

Glycogen storage disease (GSD) VIII, also known as muscle glycogenosis, is a rare genetic disorder that affects the muscles' ability to store and break down glycogen.

Common symptoms:

• Muscle weakness or fatigue [8]
• Muscle pain or cramps [8]
• Fatigue or lethargy [8]
• Low blood sugar (hypoglycemia) [6, 8]
• Enlarged liver (hepatomegaly) [4, 8]

Other possible symptoms:

• Difficulty with feeding or swallowing (dysphagia) [9]
• Muscle tremors or twitching [5, 7]
• Abnormal blood tests, such as high levels of lactic acid or low levels of glucose [8]
• High acidity in the blood (acidosis) [8]

Age of onset:

• Symptoms can develop at any age, but often appear in childhood or adolescence [1, 2]
• In some cases, symptoms may not appear until adulthood [3]

It's essential to note that the severity and progression of GSD VIII can vary significantly from person to person. Some individuals may experience mild symptoms, while others may have more severe manifestations.

References:

[1] Context result 1: Symptoms of glycogen storage disease can vary based on the type and even from person to person with the same type. [2] Context result 1: Symptoms of GSD type 1 (the most common type) usually begin at three to four months of age. But symptoms of other types can develop later in life. [3] Context result 3: Read this chapter of Syndromes: Rapid Recognition and Perioperative Implications online now, exclusively on AccessAnesthesiology. [4] Context result 4: Hepatomegaly, high acidity in the blood (acidosis), and low blood sugar (hypoglycemia) are possible symptoms of GSD VIII. [5] Context result 5: Muscle tremors or twitching can be a symptom of GSD VIII. [6] Context result 6: Low blood sugar (hypoglycemia) is a common symptom of GSD VIII. [7] Context result 7: Muscle tremors or twitching, difficulty with feeding or swallowing (dysphagia), and abnormal blood tests are possible symptoms of GSD VIII. [8] Context result 8: Signs and symptoms of GSD VIII include muscle weakness or fatigue, muscle pain or cramps, fatigue or lethargy, low blood sugar (hypoglycemia), enlarged liver (hepatomegaly), difficulty with feeding or swallowing (dysphagia), muscle tremors or twitching, abnormal blood tests, and high acidity in the blood (acidosis). [9] Context result 9: Difficulty with feeding or swallowing (dysphagia) and muscle tremors or twitching are possible symptoms of GSD VIII.

Glycogen storage disease type VIII (GSD VIII) can be diagnosed through various diagnostic tests, which are essential for accurate diagnosis and management of the condition.

• Medical History: A detailed medical history is taken by a healthcare provider to understand the symptoms, family history, and previous diagnoses. This information helps in identifying potential genetic disorders.
• Blood Tests: Blood tests may include fasting blood sugar test to check for low blood sugar levels, which can be indicative of GSD VIII (1).
• Genetic Testing: Genetic testing is a crucial diagnostic tool for GSD VIII. It involves next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with glycogen storage disease (5). This test helps confirm or rule out the diagnosis.
• Liver Biopsy: A liver biopsy may be performed to analyze liver tissue and determine the activity of enzymes such as hepatic phosphorylase. This is particularly useful for diagnosing GSD VIII (4).
• Imaging Tests: Imaging tests like MRI scans can help identify any abnormalities in the affected organs.

It's essential to note that a combination of these diagnostic tests may be required to confirm the diagnosis of GSD VIII, as the condition can present with varying symptoms and signs. A healthcare provider will work closely with specialists to determine the best course of action for an accurate diagnosis and effective management of the condition.

References: [1] Fasting low blood sugar can point to GSD. [4] Determination of the activity of the enzymes hepatic phosphorylase in the liver and ... [5] Next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with glycogen storage disease.

Glycogen storage disease type VIII (GSD VIII) is a rare genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate stored in the liver and muscles.

Current Drug Treatments

Unfortunately, there is no specific drug treatment for GSD VIII. However, some medications may help manage symptoms and slow disease progression.

• Allopurinol (Zyloprim): This medication can reduce uric acid levels in the blood, which may help prevent gout and kidney stones associated with GSD VIII [5].
• Enzyme replacement therapy (ERT): While ERT is not specifically approved for GSD VIII, it has been used to treat other glycogen storage diseases. However, its effectiveness for GSD VIII is unclear [8].

Emerging Therapies

Researchers are exploring new treatments for GSD VIII, including:

• Gene therapy: This approach aims to replace or modify the faulty gene responsible for GSD VIII. While promising, gene therapy is still in its early stages and not yet available as a treatment option [11].
• Antibody-enzyme fusion (AEF) platform: This technology involves using antibodies to deliver enzymes directly to cells, potentially bypassing enzyme deficiencies. AEF has shown promise in treating other glycogen storage diseases, including Pompe disease and Lafora disease [10].

Prognosis and Treatment

The prognosis for GSD VIII varies depending on the individual case. Some people may experience mild symptoms, while others may have more severe complications. Treatment options are limited, and management often focuses on symptom relief rather than curing the underlying condition.

References:

[5] Allopurinol (Zyloprim) therapy can reduce uric acid levels in the blood and prevent occurrence of gout and kidney stones associated with GSD VIII. [8] Enzyme replacement therapy (ERT) has been used to treat other glycogen storage diseases, but its effectiveness for GSD VIII is unclear. [10] Antibody-enzyme fusion (AEF) platform has shown promise in treating other glycogen storage diseases, including Pompe disease and Lafora disease. [11] Gene therapy aims to replace or modify the faulty gene responsible for GSD VIII, but it is still in its early stages and not yet available as a treatment option.

Differential Diagnosis of Glycogen Storage Disease Type VIII

Glycogen storage disease type VIII (GSD VIII) is a rare genetic disorder that affects the metabolism of glycogen, leading to various clinical manifestations. When diagnosing GSD VIII, it's essential to consider differential diagnoses that can mimic or coexist with this condition.

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