Similar Diseases
- Dextrinosis
- Glycogenosis due to liver glycogen phosphorylase deficiency
- Inborn error of lipid storage
- Amylo 1,6 glucosidase deficiency
- Amylopectinosis
- Alpha-1,4-glucosidase acid deficiency, late onset
- Glycogen storage disease IX
- Glycogenosis due to muscle phosphorylase kinase deficiency
- Disorder of lysosomal enzyme
- Glycogenosis due to liver and muscle phosphorylase kinase deficiency
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Glycogen storage disease type III – Diagnosis | Differential diagnosis
The differential diagnosis of glycogen storage disease type III includes GSD I, GSD IX and GSD VI. This however does not mean other glycogen storage diseases should not be distinguished as well.
Glycogen storage disease type III – Diagnosis
In terms of the diagnosis for glycogen storage disease type III, the following tests/exams are carried out to determine if the individual has the condition:
- Biopsy (muscle or liver)
- CBC
- Ultrasound
- DNA mutation analysis (helps ascertain GSD III subtype)
Glycogen storage disease – Treatment
Treatment is depended on the type of glycogen storage disease. E.g. GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor.
Glycogen storage disease – Epidemiology
Overall, according to a study in British Columbia, approximately 2.3 children per 100,000 births (1 in 43,000) have some form of glycogen storage disease. In the United States, they are estimated to occur in 1 per 20,000–25,000 births. Dutch incidence rate is estimated to be 1 per 40,000 births.