Claire Millonig
KNH 413
23 April 2015
Glycogen Storage Disease
Overview:
There are 11 different types within the diagnosis of glycogen storage disease.
However, the most common is type 1 glycogen storage, also known as Gierke’s disease. This
is an inherited disorder that results in metabolism abnormalities. Normally, after we eat,
the liver stores glycogen to keep our blood glucose levels normal but in the case of
someone with type 1 glycogen storage disease, the enzyme needed to release glycogen
from the liver is missing. Therefore, blood glucose levels drop into a hypoglycemic state
within a few hours after eating.
Glycogen storage disease is an inherited disorder, which results in a lack of the
enzyme required to break down glycogen into glucose to be released into the body.
Glycogen stores are used when a person is not eating to keep blood glucose levels stable.
Since this is a genetic disorder, it is most commonly diagnosed in children between
the ages of 4 and 10, sometimes even in infants (ALF). Symptoms include extreme hunger,
delayed growth, fatigue, irritability, enlarged liver and a swollen abdomen. If these
symptoms are observed, a child will most likely see his or her doctor for further testing.
These tests include blood tests, ultrasounds to measure the liver and kidneys, and genetic
testing or liver biopsy is possible. The blood tests will include an evaluation of blood
glucose levels, cholesterol, triglycerides, lactate and uric acid. If a needle biopsy or liver
biopsy were required, the child would need to be admitted to the hospital for these
procedures.
The main focus of treatment for type 1 glycogen storage disease is making sure the
child continues to grow properly and correcting the metabolic changes in the body. Most
commonly, raw cornstarch (1-2 g/kg body weight per dose) mixed with water, soy formula
or soymilk is to be consumed every 3-6 hours (Nelms). The cornstarch digests slowly,
which allows a slow and steady release of glucose. Also, small, frequent feedings are
recommended throughout the day. The child may also require an enteral feeding tube at
night to supply glucose steadily or a cornstarch mixture may be consumed before bed and
once in the middle of the night. Most doctors agree that fructose and galactose should be
limited in the diet, however the amount of restriction is done on a case-by-case basis. Since
there are many limitations to what a child with type 1 glycogen storage disease can eat, it is
recommended to take a multivitamin and possibly a calcium supplement. It is
recommended that a patient with type 1 glycogen storage disease consume 60%-70% of
their total calories from carbohydrates, 10%-15% from protein and less than 30% from fat
(Nelms). In type 1 glycogen storage disease, infections are common because of a weakened
immune system. If the child develops any kind of infection or sickness, an IV with glucose
would be necessary until the issue is resolved. Because of the weakened immune system,
adequate sources of zinc are necessary to help support a healthy and strong immune
system as well as to support normal growth. Currently there is research being done about
gene therapy in patients with type 1 glycogen storage disease, however, no conclusions
have been drawn yet.
Glycogen storage disease is diagnoses during infancy and childhood, which resulted
in very little survivors through adulthood in the past. With more advanced medicine and
diet therapy than before this is no longer the case. Careful monitoring of diet and blood
sugar levels now allows people to live into adulthood. Without careful monitoring, low
blood sugar can become fatal. It is important to be aware of infections, kidney
complications, high blood pressure and tumors in the liver. Long-term complications are
most commonly renal failure, kidney stones, osteoporosis (brittle bones), benign cysts on
the ovaries, and benign tumors on the liver (American Liver Foundation).
General Guidelines:
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Dietary treatment
o Small, frequent meals throughout the day.
o Consume 60%-70% of their total calories from carbohydrates, 10%-15%
from protein and less than 30% from fat
o Restricted intake of fructose and galactose
 Fruits, juice, milk, dairy products and sweets that contain sucrose
o Multivitamin and calcium supplementation
For young children
o Raw cornstarch (1-2 g/kg body weight per dose) mixed with water, soy
formula or soy milk every 3-6 hours.
o Raw cornstarch mixture before bed and once in the middle of the night if not
using enteral drip.
Sickness
o Enteral tube should be used for infusion of carbohydrates
o If this is not tolerated, then they should be hospitalized to receive glucose
through an IV.
Additional Resources:
American Liver Foundation: http://www.liverfoundation.org/abouttheliver/info/gsdi/
University of Florida: https://ufhealth.org/sites/default/files/media/GSD/GeneralNutrition-Guidelines-for-Glycogen-Storage-Disease-Type-I.pdf
Sample Diet for a 2-year-old child:
Time
8 am
Food
Sliced banana
Amount
½ banana
10 am
12:30 pm
3 pm
6 pm
7:30 pm
Cheerios
Soy Milk
Granola Bar
Shredded deli
turkey
Cheese pieces
Cooked carrot
pieces
Water
Toast
Almond Milk
Green beans
Rice
Shredded
Chicken breast
Soy Milk
Soy Milk
Popcorn
½ cup
8 fl. Oz.
1 bar
1.5 oz.
1 slice
¼ cup
8 fl. Oz.
1 slice
8 fl. Oz.
½ cup
½ cup
2 oz.
4 fl. Oz.
4 fl. Oz.
1 cup
Sources
Genetics of Glycogen-Storage Disease Type I Treatment & Management. (n.d.). Retrieved
March 9, 2015, from http://emedicine.medscape.com/article/949937-treatment
Glycogen storage disease type Ib | Counsyl. (n.d.). Retrieved March 9, 2015, from
https://www.counsyl.com/services/family-prep-screen/diseases/glycogenstorage-disease-type-ib/
Nelms, M. (2011). Nutrition therapy and pathophysiology (2nd ed.). Belmont, CA:
Wadsworth, Cengage Learning.
Type I Glycogen Storage Disease. (n.d.). Retrieved March 9, 2015, from
http://www.agsdus.org/html/typeigsd.html
Type I Glycogen Storage Disease. (n.d.). Retrieved March 9, 2015, from
http://www.liverfoundation.org/abouttheliver/info/gsdi/
Zinc. (n.d.). Retrieved March 9, 2015, from http://ods.od.nih.gov/factsheets/ZincHealthProfessional/