Glycogen Storage Disease Type VII: Symptoms, Treatment, and Prognosis

Glycogen storage disease type VII

Glycogen storage disease type VII (GSD VII), also known as Tarui disease, can present with symptoms such as muscle weakness, exercise intolerance, and myoglobinuria, particularly during infancy.
There is currently no cure for this condition, and treatment mainly focuses on managing symptoms and preventing complications.
Some doctors may suggest that life expectancy can be limited, with some children not living beyond the age of four, but this can vary significantly based on individual circumstances and management of the disease.
GSD VII is indeed considered a rare disease, and patients may face various challenges as they grow, including ongoing muscle weakness and potential complications related to physical activity.
Early diagnosis and supportive care can help improve quality of life, but the prognosis can vary widely among affected individuals.

Zhu Zhu, 30~39 year old female. Ask Date: 2004/07/04

Dr. Lin Qingyuan reply Rare Disease

Glycogen storage disease type VII, also known as Tarui's disease, is indeed a very rare condition.
According to data from Europe and the United States, it predominantly occurs in individuals of Jewish descent, with an incidence of approximately 2.3 cases per 100,000 live births each year.
There are no detailed statistics available for Taiwan.
Glycogen storage disease type VII has three subtypes:
1.
The classic Tarui's disease, which typically presents in childhood, with primary symptoms including intolerance to strenuous exercise, muscle weakness and stiffness, muscle pain and cramps, as well as anemia.

2.
The early-onset infantile form, which is more severe and usually manifests within the first year of life; experience suggests that many affected individuals do not survive past the age of four.

3.
The late-onset form, which presents in adulthood, generally has milder symptoms, characterized by progressive muscle weakness.
Treatment mainly consists of supportive care and symptom management.
The prognosis of the disease correlates with the subtype classification, with the infantile form having the worst prognosis and the late-onset form having the best.
Care for affected children primarily involves avoiding excessive exercise and maintaining regular follow-up and symptom management in collaboration with healthcare providers.

Reply Date: 2004/07/04

More Info

Glycogen Storage Disease Type VII (GSD VII), also known as Tarui's disease, is a rare metabolic disorder caused by a deficiency of the enzyme phosphofructokinase (PFK), which plays a crucial role in glycolysis, the process by which glucose is broken down to produce energy. This condition primarily affects skeletal muscles and, to a lesser extent, the liver.

Symptoms
Symptoms of GSD VII typically manifest in infancy or early childhood. Common symptoms include:
1. Muscle Weakness: Children may experience significant muscle weakness, especially during physical activity. This can lead to exercise intolerance, muscle cramps, and fatigue.

2. Hypoglycemia: Due to impaired glucose metabolism, affected individuals may experience low blood sugar levels, particularly during fasting or prolonged exercise.

3. Myoglobinuria: Muscle breakdown can lead to the release of myoglobin into the urine, resulting in dark-colored urine, especially after exercise.

4. Growth Delays: Children with GSD VII may experience delayed growth and development due to the metabolic challenges posed by the disease.

5. Cardiomyopathy: Some individuals may develop heart problems, including cardiomyopathy, which can lead to further complications.

Treatment
Currently, there is no cure for GSD VII, and treatment focuses on managing symptoms and preventing complications. Management strategies may include:
1. Dietary Modifications: A diet high in carbohydrates and low in simple sugars can help manage hypoglycemia. Frequent meals and snacks may be recommended to maintain stable blood sugar levels.

2. Exercise Management: Patients are often advised to avoid strenuous exercise to prevent muscle damage and myoglobinuria. Gentle, low-impact activities may be encouraged.

3. Monitoring: Regular monitoring of blood glucose levels, muscle function, and overall health is crucial to manage the condition effectively.

Prognosis
The prognosis for individuals with GSD VII can vary significantly. While some children may experience severe symptoms and complications leading to a shortened lifespan, others may have a milder form of the disease and live into adulthood with appropriate management. The statement that affected children may only live until around four years old is not universally applicable; many individuals with GSD VII can live longer with proper care and lifestyle adjustments.

Rarity
GSD VII is indeed considered a rare disease, classified under glycogen storage diseases, which are themselves rare metabolic disorders. The prevalence of GSD VII is estimated to be very low, making it one of the less common types of glycogen storage diseases.

Future Considerations
Children diagnosed with GSD VII may face various challenges as they grow, including:
- Physical Limitations: Due to muscle weakness and exercise intolerance, children may need support in physical activities and may require adaptations in their daily lives.

- Psychosocial Impact: Living with a chronic condition can affect mental health and social interactions, necessitating support from healthcare providers, family, and peers.

- Long-term Health Monitoring: Regular follow-ups with healthcare providers specializing in metabolic disorders are essential to monitor for potential complications and to adjust treatment plans as needed.

In conclusion, while GSD VII presents significant challenges, early diagnosis and comprehensive management can improve the quality of life for affected individuals. Families should work closely with healthcare providers to develop a tailored care plan that addresses the unique needs of the child.

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