A Review of Glycogen Storage Disease Type III:

Modified Atkins Diet Improves Myopathy

Livija Wells
NTR 401
November 11, 2016

Introduction
Everything is better in moderation is a phrase that is commonly applied to all aspects
of life but rarely accepted by the general public when it comes to daily diets. This is evident
when observing average carbohydrate consumption levels. Carbohydrates are consumed in
abundance all over the world, which usually leads to many metabolic diseases. Some of these
diseases include BLAH BLAH and Glycogen Storage Disease.
Glycogen Storage Disease type-III (GSD III) is an inherited disorder caused by
accumulation of glucose in the bodys cells (Mayorandan, Meyer, Hartmann, & Martin Das,
2014). Infants with GSD III often present with hypoglycemia, hyperlipidemia, and/or elevated
blood levels of liver enzymes (NIH, 2016). Hepatomegaly, a condition where the liver is
enlarged, develops as children with GSD III age and may lead to liver failure. GSD III often
delays growth and causes myopathy or muscle weakness due to liver complications (NIH, 2016).
GSD III leading to hypoglycemia creates obstacles in a low carbohydrate diets, which
were discussed in Glycogen Storage Disease Type III: Modified Atkins Diet Improves Myopathy.
The authors of this article identified the purpose of this study as an attempt to observe the effects
of a modified Atkins (low carbohydrate) diet on myopathy in children with GSD III. As a part of
this study, the researchers planned tostudy the effects of changing dietary restrictions on
glucose production.I DONT KNOW JUST RANDOMLY WRITING HERE!
Methods
This study treated two boys (ages 9 and 11) with GSD III, with a modified Atkins diet
(10g of carbohydrate/day with protein and fat intake left as desired) over a period of 26-32
months (Mayorandan et al., 2014). The first patient, patient 1, a 9-year-old boy of Sri Lankan

origin was diagnosed with GSD III 7 months after birth. He suffered from myopathy (disease of
muscle tissue), hepatomegaly (abnormal enlargement of the liver), and motor impairment
(reduction of physical movement). Before diagnosis, the patient suffered from low blood glucose
levels of 0.1 mmol/l commonly referred to as hypoglycemia. The diagnosis of GSD III was
confirmed by the lack of amyloglucosidase activity in blood cells (Mayorandan et al., 2014).
Amyloglucosidase is an enzyme that converts starch to glucose (Gropper, & Smith, 2013). The
second patient, Patient 2, is an 11-year-old boy of Iranian descent. This patient was diagnosed
with GSD III after suffering with reoccurring episodes of hypoglycemia. The patients symptoms
included nausea and chest pain after physical activity and presented delayed growth and motor
development. Just as in patient 1, diagnosis of GSD III was confirmed due to a deficiency of
amyloglucosidase activity in red blood cells (Mayorandan et al., 2014).
Initially, both patients were closely monitored in the hospital during their modified Atkins
diet (MAD) for two weeks. Hospitalization allowed the patients and their families to learn and
practice the dietary restrictions. Said diet consisted of low carbohydrate meals (10g of carbs/day)
that were also high in fat and protein (Mayorandan et al., 2014). Every 3-6 months, metabolic
status was observed and recorded to ensure compliance. The following values were recorded:
CK-levels in serum, liver function, acylcarnitine levels, amino acids in plasma, lipids and
glucose in serum and ketone bodies in plasma and urine (Mayorandan et al., 2014).
Key Findings
The results of this experiment showed creatine kinase (CK) levels in blood decreased in
both patients exposed to MAD. For patient 2, chest pain and muscular weakness diminished with
the Atkins diet. There were no side effects as a result of MAD, and weight gain/growth
corresponded with average for child age (Mayorandan et al., 2014). A diet composed of high
3

carbohydrate intake caused depletion of fatty acids and ketone bodies in muscle. The
implementation of MAD led to improvement of skeletal muscle function in both patients as seen
by decreased CK-levels in plasma, which are indicators of muscle dysfunction (Mayorandan et
al., 2014). Although the diet prevented hypoglycemia and improved muscle function, it is not a
cure for muscle dysfunction. A diet low in carbs doesnt prevent hypoglycemia OH MY GOSH I
HAVE NO CLUE WHAT IM SAYING
Metabolic Principles, Pathways and Mechanisms
In relation to Advanced Nutrition and Human Metabolism, glycogenesis is the pathway
discussed in this article. Glycogenesis is a pathway promoting glycogen synthesis, where
molecules of glucose are added to glycogen chains for storage (Gropper, & Smith, 2013).
Glycogenesis occurs during the well-fed state in liver and muscle cells. In the muscle, glycogen
is stored as glucose and is used for muscle contraction (Gropper, & Smith, 2013). A key
regulatory step in glycogenesis is created by the enzyme glycogen synthase. This enzyme is
responsible for phosphorylation (turns off glycogen synthesis), and dephosphorylation (turns on
glycogen synthesis) (Gropper, & Smith, 2013). Phosphorylation during the well-fed state is key
to this experiment, because it keeps free glucose levels low and the authors of this experiment
restricted the patients to a low carbohydrate diet. Reduction of the glycogen synthase activity
along with decreased stored glycogen benefit to improve energetic balance. Glycogenesis is
important in human metabolism because allows excess glucose to be stored in the liver and
muscle in order to correct abnormally high glucose levels.

References

Glycogen storage disease type III - Genetics Home Reference. (n.d.). Retrieved November 10,
2016, from https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii

Gropper, S. A., & Smith, J. L. (2013). Advanced Nutrition and Human Metabolism. Belmont,
CA: Wadsworth/Cengage Learning.

Mayorandan, S., Meyer, U., Hartmann, H., & Das, A. M. (2014). Glycogen storage disease type
III: Modified Atkins diet improves myopathy. Orphanet Journal of Rare Diseases
Orphanet J Rare Dis, 9(1). doi:10.1186/s13023-014-0196-3