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Carlie Rider

Dr. Holben
MNT II 4100
18 NOV 2014
Annotated Bibliography

GSD I-III

Glycogen Storage Disease: Types I-III


1). Koeberl, D. D., Kishnani, P. S., & Chen, Y. T. (2007). Glycogen storage disease types I-III:
treatment updates. Journal of inherited metabolic disease, 30(2), 159-164.
Glycogen storage diseases are the result of deficiency of enzymes that cause the
alteration of glycogen metabolism. The liver forms (type I, III, IV and VI) are due to an increase
in liver glycogen and hypoglycemia, which is caused by the inability to convert glycogen to
glucose. The muscle forms (type II, IIIA, V and VII) have mild symptoms appearing during
strenuous exercises owing the inability to provide energy for muscle contraction.
Type I (Glucose-6-phosphatase deficiency) also known as Von Gierkes disease. This is
the most common autosomal recessive disease. This disease is characterized by severe
hypoglycemia that coincides with metabolic acidosis, ketonemia and elevated lactate (due to
excess glycolysis) and alanine. Hypoglycemia occurs because glycogen cannot be converted
back to glucose. A glycogen build up is found in liver causing hepatomegaly. The patients have
severe hypoglycemia, hyperlipidemia (increased lipolysis caused by decreased glucose),
uricemia (caused by competitive inhibition by lactate of renal tubular urate secretion and
increased uric acid production) and growth retardation.
Type II (Lysosomal 1->4 and 1->6 Glucosidase deficiency) is known as Pompes
disease. It affects predominantly the heart and skeletal muscle, producing muscle weakness and
cardiomegaly. Liver function is normal and patients do not have hypoglycemia. Two forms
identified; (1) infantile (pompes disease) that develop in first few months of life with weakness

Carlie Rider
Dr. Holben
MNT II 4100
18 NOV 2014
Annotated Bibliography

GSD I-III

and respiratory difficulties and (2) juvenile that is present in second or third decade of life with
difficulty in walking.
Type III (Amylo-1,6-Glucosidase deficiency) is known as Forbes or Coris disease. Its a
deficiency of glycogen debranching enzyme results in storage of an abnormal form of glycogen
(limit dextrinosis). Both liver and muscle are affected (type IIIA), producing hepatomegaly and
muscle weakness. About 15% have only liver involvement (Type IIIB). Differentiation from type
I is by hyperglycemic response to galactose, low concentration of urate and lactate in blood, and
elevated serum transaminases and creatinine kinase activities.
2) Mahan, L. Kathleen., and Sylvia Escott-Stump. Krause's Food, Nutrition, & Diet Therapy.
Philadelphia: W.B. Saunders, 2000. Print.
Glycogen Storage Disease reflects the inability to metabolize glycogen to glucose. There
are a number of possible enzyme defects along the pathway. The most common types of
Glycogen Storage Disease are Type I and Type III (Von Gierke and Cori). Treatment protocols
are still evolving but include different kinds of carbohydrates at various doses during the day and
night. Every individual diagnosed with the disease is going to have different dosages of
carbohydrates. The goal for all protocols remains the same: normalize blood glucose levels.
Administration of raw cornstarch are regular intervals and a high-complex carbohydrate, low-fat
dietary pattern are advocated to prevent hypoglycemia.

Carlie Rider
Dr. Holben
MNT II 4100
18 NOV 2014
Annotated Bibliography

GSD I-III

3) Wolfsdorf, Joseph I., and David A. Weinstein. "Glycogen storage diseases." Reviews in
endocrine & metabolic disorders 4.1 (2003): 95-102.
Glycogen storage disease is usually diagnosed in infancy or childhood as a result of the
symptoms: (Type I and III)- Enlarged liver and kidneys, low blood sugar, high levels of lactate,
fats, and uric acid in the blood, impaired growth /delayed puberty, bone thinning from
osteoporosis, increased mouth ulcers/ infection. For type II: Enlarged liver/ heart, and in severe
cases, muscle weakness and heart problems develop. Infants may suffer heart failure by the age
of 18 months. Glycogen storage disease type Ia (Von Gierke disease) is an inherited metabolic
disorder resulting from a deficiency in the enzyme glucose 6-phosphatase (G6Pase). Without
G6Pase activity, all endogenous glucose production is impaired as this critical enzyme catalyzes
the final step of both gluconeogenesis and glycogenolysis. Consequently, circulating blood
glucose levels cannot be increased in response to positive glucoregulatory stimuli leading to a
condition characterized by fasting hypoglycemia, as well as accumulation of glycogen and fat,
particularly within liver and kidney tissues.
4) Chen, Y. T., Bazzarre, C. H., Lee, M. M., Sidbury, J. B., & Coleman, R. A. (1993). Type I
glycogen storage disease: nine years of management with cornstarch. European journal of
pediatrics, 152(1), 56-59.
Long-term effects of cornstarch therapy on biochemical values and physical growth in
children with type I glycogen storage disease (GSD I) were compared to those of children
receiving continuous nocturnal nasogastric glucose feedings. Only patients who had received
more than 5 years of dietary therapy were evaluated. Six patients received uncooked cornstarch

Carlie Rider
Dr. Holben
MNT II 4100
18 NOV 2014
Annotated Bibliography

GSD I-III

and seven patients received continuous nocturnal glucose feedings. Blood glucose, lactate,
cholesterol and triglyceride levels were not significantly different between the two methods of
treatment. All patients maintained linear growth rates normal for their age. This study was very
interesting comparting the two types of therapies for Glycogen Storage Disease.
5) Smit, G. P. A., et al. "The long-term outcome of patients with glycogen storage diseases."
Journal of inherited metabolic disease 13.4 (1990): 411-418.
Current therapy is directed at preventing hypoglycemia through sustained provision of
glucose via continuous or frequent feedings or consumption of uncooked starches [48]. These
types of palliative dietary therapy have had a profound impact on morbidity and mortality,
allowing most affected individuals to have near normal growth, pubertal development, and
subsequent survival to adulthood. However, the underlying pathology remains untreated and the
therapy can have other metabolic consequences such as hyperinsulinemia and excessive caloric
intake from continuous glucose delivery [9]. In addition, long-term complications remain a
problem in individuals with GSDI. Therefore, a search for additional or alternative therapeutic
approaches geared to help improve quality of life and long-term outcomes for patients with
GSDI continues.