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Glycogen storage disease type II

Glycogen storage disease type II (also called Pompe disease or infantile acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. It is the only glycogen storage disease with a defect in lysosomal metabolism, and was the first glycogen storage disease to be identified—in 1932. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system. Transmission is by autosomal recessive inheritance. more...

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Children have a 1 in 4 chance of inheriting the disease when both parents carry the abnormal gene. It is estimated to occur in about 1 in 40,000 births.


Pompe disease has three forms defined by age of onset and progression of symptoms:

Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.

Juvenile onset symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm and lower limbs, as well as exercise intolerance. Intelligence is normal. Most patients do not live beyond the second or third decade of life.

Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations


Cardiac and respiratory complications are treated symptomatically. Physical and occupational therapy may be beneficial for some patients. Alterations in diet may provide temporary improvement but will not alter the course of the disease. Genetic counseling can provide families with information regarding risk in future pregnancies.


The prognosis for individuals with Pompe disease varies according to the onset and severity of symptoms. The disease is particularly lethal in infants and young children.


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Polycystic Ovary Syndrome and a Low Glycemic Index Diet
From Canadian Journal of Dietetic Practice and Research, 7/1/05 by Allen, Cheryl


Polycystic ovary syndrome (PCOS), a combination of metabolic, endocrine and reproductive irregularities, may be the most common endocrine disorder and cause of infertility seen in women (Marshall, 2001). A true estimate of prevalence is not available, due to differences in diagnostic criteria; however, rates could be as high as 10% in the North American female population (Hoyt et al., 2004).


Symptoms of PCOS commonly include amenorrhea or oligomenorrhea, anovulation or irregular ovulation, infertility, presence of ovarian cysts, enlarged ovaries, hyperandrogenism, weight gain, male pattern fat distribution and hair loss, excess facial and body hair, skin tags, and acne (Marshall, 2001). Women with PCOS experience abnormal androgen production, the cause of which is unknown. An outcome of this hormone imbalance is hyperinsulinemia and consequent insulin resistance (Balen, 2004). Thus, women with PCOS are often diagnosed with type II diabetes. Fifty percent of women with PCOS are obese (Marshall, 2001) and many have hypertension and dyslipidemia.


There is no specific treatment for PCOS. Instead, physicians who practice traditional western medicine try to alleviate symptoms through various drugs that target the different attributes of the disease. Drugs include oral contraceptives, insulin-sensitizing agents and anti-androgen drugs (Marshall, 2001). The potential ineffectiveness, costs and side effects of these drugs has spurred research into alternative treatment options, including diet and lifestyle interventions.

Role of diet

Due to the relationship between hyperinsulinemia and hyperandrogenism, improved insulin sensitivity may decrease androgen production, and thereby minimize many of the symptoms associated with PCOS (Hoyt et al., 2004). Diet and lifestyle changes are helpful in managing insulin sensitivity. Nutrition research has focused on the low glycemic index (GI) diet and reducing body mass. Both interventions have been shown to improve insulin sensitivity, thereby improving reproductive hormone imbalances (Hamilton & Fairly, 2000: Clark et al, 1995). Foods with a low GI are slowly digested and produce a prolonged postprandial insulin release (Augustine et al., 2002). Choosing foods that supply glucose to the cells at a steady rate results in moderate insulin demands and may help improve insulin resistance (Bell & Sears, 2003).

Studies have shown that a 5-10% reduction in weight can potentially improve serum androgen levels and fertility in obese women with PCOS (Moran & Norman, 2004), so weight reduction should be highly recommended for these women (Moran & Norman, 2004). Simple carbohydrates and breads made from refined flour products may aggravate insulin resistance and promote weight gain, thereby compounding symptoms associated with PCOS (Scalzo & McKittrick, 2000). Conversely, a low GI diet is associated with weight loss in women with PCOS because it emphasizes high fibre vegetables, legumes and fruit, lean protein, whole grains and heart-healthy fats, leading to increased satiety and less overeating (Scalzo & McKittrick, 2000). A low GI diet could be beneficial in the treatment of PCOS by improving insulin sensitivity and promoting weight loss. The low GI diet is easy to follow, includes foods from all four food groups and therefore may be used as a safe and feasible lifestyle approach to managing PCOS (GilbertsonetaL, 2003).

Nutrient supplements have possible benefits for the treatment of insulin resistance associated with PCOS. These include: omega-3 fatty acids, which are found in fish oil and increase glycogen storage (Clarke, 2000), chromium, a mineral involved in insulin utilization pathways in the body (Schmidt-Finney & GonzalezCampoy, 1997) and d-chiro-inositol, a phosphoglycan involved in insulin uptake (Luorno et al., 2002).

References available from the authors.

Contact Information:

Cheryl Allen, BASc

Dandle Crake, BASc

Heather Wilson, BASc

Andrea Buchholz, PhD, RD

(Faculty Advisor)

University of Guelph


(519) 824-4120 (52347)

Copyright Dietitians of Canada Summer 2005
Provided by ProQuest Information and Learning Company. All rights Reserved

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