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Glycogen Storage Disease Created by Carlie Rider.

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1 Glycogen Storage Disease Created by Carlie Rider

2 Etiology of GSD  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. Biochemistry, Seventh Edition 2012 M.H.

3 Chou, J. Y. et al. (2010) Glycogen storage disease type I and G6Pase ‑ β deficiency: etiology and therapy Nat. Rev. Endocrinol. doi: /nrendo

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5 Type I Von Gierke  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. Glucagon and epinephrine cannot produce hyperglycemia but result in increased lactate concentration and lipolysis.  Is deficient in Glucose-6-Phosphatase Greene, H. L., Slonim, A. E., O'Neill Jr, J. A., & Burr, I. M. (1976). Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. New England Journal of Medicine, 294(8),

6 Metabolic Pathways of Carbohydrates and GSDs Wolfsdorf, Joseph I., and David A. Weinstein. "Glycogen storage diseases." Reviews in endocrine & metabolic disorders 4.1 (2003):

7 Type II Pompes Disease  It affects predominantly the heart and skeletal muscle, producing muscle weakness in the heart.  Liver function is normal and patients do not have hypoglycemia.  In the most severe cases, disease onset occurs in infancy and death results from cardiac and respiratory failure within the first 1 or 2 years of life. In the milder late-onset forms, cardiac muscle is spared and muscle weakness is the primary symptom.  Weakness of respiratory muscles is the major cause of mortality in these cases. Koeberl, D. D., Kishnani, P. S., & Chen, Y. T. (2007). Glycogen storage disease types I and II: treatment updates. Journal of inherited metabolic disease, 30(2),

8 Type III Cori Disease  Prevents glycogen breakdown beyond branching points.  This disorder is similar to Type I in that glycogenolysis is inefficient by gluconeogenesis is amplified to help maintain glucose production.  The symptoms of Cori are less severe and range from hepatomegaly to severe hypoglycemia.  Hepatomegaly: is swelling of the liver beyond its normal size  Hypoglycemia: is a condition that occurs when your blood sugar (glucose) is too low. Blood sugar below 70 mg/dL is considered low. Blood sugar at or below this level can harm you. Mahan, L. Kathleen., Sylvia Escott-Stump, Janice L. Raymond, and Marie V. Krause. Krause's Food & the Nutrition Care Process. St. Louis, MO: Elsevier/Saunders, Print.

9 Medical Diagnosis  Glycogen storage disease is usually diagnosed in infancy or childhood as a result of the symptoms listed below:  Type I - Von Gierke Disease  Enlarged liver and kidneys  Low blood sugar  High levels of lactate, fats, and uric acid in the blood  Impaired growth and delayed puberty  Bone thinning from osteoporosis  Increased mouth ulcers and infection  Type II - Pompe's Disease  Enlarged liver and heart  In severe cases, muscle weakness and heart problems develop  In severe cases, infants may suffer heart failure by the age of 18 months  Milder forms of type II may not cause heart problems

10 Nutrition Diagnosis  Usually diagnosed in infancy or childhood as a result of the above symptoms. If your child's doctor suspects a glycogen storage diseases, he or she will ask about your child's symptoms and medical history, then perform a physical exam. The doctor will perform tests to rule out or confirm the diagnosis. These tests may include:  Biopsy of the affected organs  Blood and urine samples  MRI scan – a test that uses magnetic waves to make pictures of the inside of the body Wolfsdorf, Joseph I., and David A. Weinstein. "Glycogen storage diseases." Reviews in endocrine & metabolic disorders 4.1 (2003):

11 Nutrition Treatment  Frequent Meals/Total Parental nutrition  Continuous nocturnal gastric drip feeding (CNGDF)  Administration of uncooked cornstarch (UCCS)  GSD diet is high in Carbohydrate and low in galactose and fructose  *Foods rich in galactose and fructose are avoided since these sugars can not be converted to glucose Rake, J., Visser, G., Labrune, P., Leonard, J. V., Ullrich, K., & Smit, P. G. (2002). Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). European journal of pediatrics, 161(1), S20-S34.

12 Frequent Feedings  Managing this condition entails overnight continuous gastric high- carbohydrate feedings.  Frequent daytime feedings with energy distributed as 65% carbohydrate, 10% to 15% protein, and 25% fat; and supplements of uncooked cornstarch. Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A.,... & Wolfsdorf, J. I. (1994). Glycogen storage disease in adults. Annals of internal medicine, 120(3),

13 Continuous Nocturnal Gastric Drip Feeding (CNGDF)  Type 1 disease can be managed by nighttime intragastric feeding and frequent daytime high starch meals (cornstarch).  The nocturnal feedings were received at night over a period of 12 hours with frequent feedings which were every 3-4 hours.  The feedings were through a nasogastic tube and after the patient was discharged, the nightly infusions were continued for an additional 12 months.  60-70% of calories are composed of Carbohydrates  12-15% of calories are composed of Protein  13-25% of the calories are composed as fat Greene, H. L., Slonim, A. E., O'Neill Jr, J. A., & Burr, I. M. (1976). Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. New England Journal of Medicine, 294(8),

14 Administration of Uncooked Cornstarch  Used as a slow release of carbohydrate.  Alternative therapy for patients with GSD-I.  Inexpensive and less complicated compared to CNG  Doesn’t require an alarm system  Effictive and safe way to treat conditions which are associated with hypoglycemia 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),

15 Sample Menu for GSD Patients Diagnosed with Type I  Foods Recommended: “The majority of medical centers recommend the use of uncooked cornstarch, mixed in water, soy formula or soy milk (sucrose, fructose and lactose free). Cornstarch should not be mixed in drinks that contain high amounts of ascorbic or citric acid. Breakfast : 1 cup oatmeal 1 piece of whole wheat toast with ½ tsp butter 2 scrambled eggs Water Lunch: Baked Potato Garden Salad, no fruit 1 cupJell-o Water Snack: ½ whole wheat bagel with butter Dinner: Spaghetti with marinara 1 cup broccoli 1 cup of lentils Water Night: Do an overnight tube feeding every 3- 4 hours Glycogen storage disease type I. Genetics Home Reference (GHR). 2010;

16 Labs and other Parameters to Assess the Patient  Growth: Patient’s percentiles were calculated for their own country and those below the 3 rd percentile were considered to have retarded growth.  Liver adenoma: Detected by ultrasound investigation/computer tomography  Myopathy: clinical symptoms of myopathy defined by exercise intolerance/muscle wasting  Cardiomyopathy: defined by either clinical signs/abnormal ECG/echocardiogram Smit, G. P. A., et al. "The long-term outcome of patients with glycogen storage diseases." Journal of inherited metabolic disease 13.4 (1990):

17 Labs Continued  Hypoglycaemia: attacks of drowsiness, excessive sweating, hunger or diminished consciousness, with or without documented hypoglycaemia (blood glucose < 2.0 mmol/L)  Hyperuricaemia: when patients were on allopurinol treatment/blood uric acid concentration was < 0.36 mmol/L. Smit, G. P. A., et al. "The long-term outcome of patients with glycogen storage diseases." Journal of inherited metabolic disease 13.4 (1990):

18 Medications  Allopurionol (Type I) is given to help control hyperuricemia.  Dantrium (Type V): Medication is used to treat muscle tightness and cramping (spasms) caused by certain nerve disorders such as spinal cord injuries, stroke, cerebral palsy, and multiple sclerosis.  It works by relaxing the muscles.  Dantrolene (Type V): This medication is used to treat muscle tightness and cramping (spasms) caused by certain nerve disorders such as spinal cord injury, stroke, cerebral palsy, and multiple sclerosis.  It works by relaxing the muscles. Dantrolene helps reduce muscle pain and stiffness, improves your ability to move around, and lets you do more of your daily activities.

19 Summary Slide  GSD reflects the inability to metabolize glycogen to glucose. There are a number of possible enzyme defects along the pathway.  The most common types of GSD 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 remain 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. Mahan, L. Kathleen., Sylvia Escott-Stump, Janice L. Raymond, and Marie V. Krause. Krause's Food & the Nutrition Care Process. St. Louis, MO: Elsevier/Saunders, Print.

20 Resources  Biochemistry, Seventh Edition 2012 M.H.  Chou, J. Y. et al. (2010) Glycogen storage disease type I and G6Pase ‑ β deficiency: etiology and therapy Nat. Rev. Endocrinol. doi: /nrendo  Biochemistry, 7 th Ed W.H. Freeman and Company  Greene, H. L., Slonim, A. E., O'Neill Jr, J. A., & Burr, I. M. (1976). Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. New England Journal of Medicine, 294(8),  Koeberl, D. D., Kishnani, P. S., & Chen, Y. T. (2007). Glycogen storage disease types I and II: treatment updates. Journal of inherited metabolic disease, 30(2),  Rake, J., Visser, G., Labrune, P., Leonard, J. V., Ullrich, K., & Smit, P. G. (2002). Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). European journal of pediatrics, 161(1), S20-S34.  Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A.,... & Wolfsdorf, J. I. (1994). Glycogen storage disease in adults. Annals of internal medicine, 120(3),  Greene, H. L., Slonim, A. E., O'Neill Jr, J. A., & Burr, I. M. (1976). Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. New England Journal of Medicine, 294(8),  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),  Glycogen storage disease type I. Genetics Home Reference (GHR). 2010;  Smit, G. P. A., et al. "The long-term outcome of patients with glycogen storage diseases." Journal of inherited metabolic disease 13.4 (1990):     Mahan, L. Kathleen., Sylvia Escott-Stump, Janice L. Raymond, and Marie V. Krause. Krause's Food & the Nutrition Care Process. St. Louis, MO: Elsevier/Saunders, Print.  Wolfsdorf, Joseph I., and David A. Weinstein. "Glycogen storage diseases." Reviews in endocrine & metabolic disorders 4.1 (2003):


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