Type IV Glycogen Storage Disease Treatment & Management

Updated: Mar 17, 2022
  • Author: Bakhtawer Siraj, MD, MBBS; Chief Editor: George T Griffing, MD  more...
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Treatment

Medical Care

Unfortunately, no specific treatment or cure exists. The only way to yield the normal liver enzyme is by a liver transplant (LT). Hence, it is the only effective treatment in patients with liver failure. Matern and colleagues presented evidence that hepatic transplant may arrest GSD type IV effectively. [17] Ideally, patients should receive LT before developing an advanced disease, especially cardiomyopathy, as this can be fatal, and LT does not limit its progression. Combined liver and heart transplants may result in improved outcomes in such situations. [18]  Ewert and colleagues reported successful heart transplantation in a patient with Andersen disease and cardiomyopathy. [19]

Dietary modifications to prevent the accumulation of abnormally formed glycogen have been considered as a possible treatment option to slow the progression of the disease and decrease clinical manifestations. A study aimed at exploring this theory was conducted in 15 patients with type IV GSD. Dietary modifications included maintaining a euglycemic state with a relatively high protein diet and carbohydrate restriction. Multidisciplinary monitoring of traditional markers of metabolic control, such as growth, serum aminotransferases, glucose homeostasis, lactate, and ketone levels, liver size and function, and symptoms and signs of portal hypertension was performed during this time. The study reported benefits in reducing symptoms and signs of the disease and prolonging survival. However, as mentioned above, an LT is the only treatment option for survival if there is a concern for progressive liver disease. Hence, evaluation for possible LT and dietary modifications should proceed in parallel, and LT should be performed without delay if there is a concern for advanced liver disease. [20]

Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector. [21] These findings suggest that corrective gene therapy for GSDs may be possible in humans.

An encouraging study by Bijvoet and colleagues provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies. [22]

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Consultations

Supportive care is needed for individual manifestations, including liver failure, heart failure, and neurologic dysfunction. Consult a hepatologist regarding liver dysfunction and management, a cardiologist for heart dysfunction and management, and a neurologist versed in diagnosing and managing neuromuscular disorders.

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