Is there a case of Glycogen Storage Disease Type III that resolves on its own?
My daughter was diagnosed with Glycogen Storage Disease Type III at the age of one and a half.
Her liver enzymes have always been very high, with GOT and GPT reaching over 1000 at their peak and at least 300 at their lowest.
We have been monitoring her every six months, and she is now over five years old.
In September of last year, her enzyme levels were still over 500 and 400, and her fasting blood sugar was in the fifties.
However, during the check-up in March of this year, her levels surprisingly returned to normal, with GOT at 39, GPT at 40, and blood sugar at 80.
Will she recover as she grows up?
Jianqiang de mami, 30~39 year old female. Ask Date: 2007/04/24
Dr. Cai Yaozhou reply Gastroenterology and Hepatology
You should consult a pediatrician specializing in metabolic disorders.
Reply Date: 2007/04/24
More Info
Glycogen Storage Disease Type III (GSD III), also known as Cori disease or Forbes disease, is a genetic disorder that affects the body's ability to break down glycogen, a stored form of glucose. This condition is caused by a deficiency in the enzyme debranching enzyme, which is crucial for the proper metabolism of glycogen. The symptoms can vary widely among individuals, ranging from mild to severe, and they often include muscle weakness, liver enlargement, and hypoglycemia.
In your daughter's case, it is encouraging to hear that her liver function tests (GOT and GPT) have shown significant improvement, with values returning to normal. This is a positive sign, as it suggests that her liver function is stabilizing. The fluctuation in her blood glucose levels, particularly the recent normalization, is also a hopeful indicator. However, it is essential to understand that GSD III is a chronic condition, and while some children may experience improvements in symptoms as they grow, the disease typically does not resolve completely on its own.
The prognosis for children with GSD III can vary. Some may experience a reduction in symptoms as they age, particularly if they maintain a well-managed diet and lifestyle. Regular monitoring and management of blood glucose levels, liver function, and overall health are crucial. In some cases, individuals may develop complications such as cardiomyopathy or progressive muscle weakness, which can affect their quality of life.
It is important to work closely with a pediatric metabolic specialist who can provide tailored advice and treatment options. They may recommend dietary modifications, such as a high-protein diet or frequent meals to help manage blood sugar levels. In some cases, enzyme replacement therapy or other treatments may be considered, although these options are still under research and may not be widely available.
As your daughter continues to grow, her metabolic needs may change, and her body may adapt to some extent. However, it is essential to remain vigilant and proactive in her care. Regular follow-ups with healthcare providers will help monitor her condition and address any emerging issues promptly.
In summary, while there is potential for improvement in symptoms and liver function in children with GSD III, it is unlikely that the condition will resolve completely on its own. Ongoing medical care, dietary management, and monitoring are essential to ensure the best possible outcomes for your daughter as she grows. Always consult with a healthcare professional who specializes in metabolic disorders for the most accurate and personalized advice.
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