Galactosaemia Research Paper

Galactosaemia Diet
Description
A galactosaemia diet essentially eliminates galactose from the diet (Sharon R. R. & Kathryn P. & Ellie W., 2009). Plasma galactose-1-phosphate level should be kept below 3 to 4 mg/ 100 ml, while containing enough nutrients for normal body function (Judith F.K. & Lora B. & M.H. & Richard S., 2011). The diet allows most protein-containing foods other than milk and milk products. Fruits, vegetables, grains, breads, fats and sugars which do not consist of ingredients that contain galactose are acceptable. Some fruit and vegetables contain small amounts of bound galactose, which is not usable by the body and may not contribute to elevated blood galactose-1-phosphate.
Alternative names for the galactosaemia diet
will include low galactose diet and lactose or galactose-restricted diet (U.S. National Library of Medicine, 2012).
Situations that warrant the diet
Galactosaemia is an inherited disorder characterized by an inability of the body to utilize galactose. Individuals with galactosaemia are deficient in one of the enzyme required to metabolize galactose, a sugar that is primarily found in milk products.
Researchers have identified several types of galactosaemia. Classic galactosaemia, also known as type I or galactose-1 phosphate uridyl transferase (GALT) deficiency, is the most common and most severe form of the condition. While, other forms include galactosemia type II, also called galactokinase deficiency and type III, otherwise known as galactose epimerase deficiency. (Chad Haldeman-Englert, 2009)
Untreated galactosaemia will result in a harmful build-up of galactose and galactose-1-phosphate in the bloodstream and body tissues. An accumulation of galactose can cause damage in multiple tissues, such as the liver, kidneys, and brain. Females with galactosaemia are at increased risk for premature ovarian insufficiency and experience reproductive problems (Judith F.K. & Lora B. & M.H. & Richard S., 2011).
Infants with galactosaemia who are given milk, which contains galactose, react with severe vomiting and liver jaundice, characterized by yellow colour of the skin, within days of the initial feeding.
Serious liver damage can develop and progress to symptomatic cirrhosis. Other complications may include liver failure, cataracts, and brain damage. Treatment in first few weeks of life can prevent the most detrimental effects of galactose accumulation, but if treatment is delayed, the damage to the brain is irreversible (Sharon Rady Rofles & Kathryn Pinna & Ellie Whitney, 2009).
Galactosaemia is treated through dietary restrictions. People with the disorder must avoid foods and beverages containing lactose, which is made up of galactose and glucose. The main focus of dietary treatment is the exclusion of milk and milk products. Other examples include organ meats and legumes (Genetic Science Learning Center, 2012). With continued dietary management, many individuals with galactosaemia enjoy good health, and are able to lead independent lives (Sharon Rady Rofles & Kathryn Pinna & Ellie Whitney, 2009).
Diet-disease
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The principal source of galactose is lactose, found in almost all mammalian milks. Breast milk contains 3.7 g galactose per 100 ml while standard formula contains 3.5 – 4.3 g galactose per 100 ml. Hence, both breastfeeding and standard formula must be ceased and replaced with a galactose free formula. Soy formulas are currently the formula of choice for infants with galactosaemia.
Decreased height has been reported which may be related to hormonal factors but catch up has been reported beyond the age of 18 years.
Full fat soy drinks are equivalent in energy and protein to full cream milk. Cereal based drinks, however, may provide inadequate protein and energy intake for young children, putting them at risk of growth retardation.
Additionally, soy infant formulas are not indicated for use as a preventative formula for infants at risk of developing food allergies because of the allergenicity of soy (Susan Thompson & Merryn Netting, 2010).
Calcium from fortified soy milk has lower bioavailability as compared to cow milk. Those who choose fortified soy milk as their primary source of calcium may need to drink more to ensure they are getting their daily supply of this essential mineral. In fact, it takes about 500 mg of calcium in the fortified soy milk to equal 300 mg of calcium in cow milk, while unfortified soy milk contains about 10 mg of calcium per serving (WebMD, 2000).
Bone density has been reported to be low in children and women with galactosaemia. Potential mechanisms are abnormal levels of sex hormones, low calcium intake and possibly an intrinsic defect in the normal galactosylation of the collagen matrix of bones (Susan Thompson & Merryn Netting,
2010).
Although soymilk supplies some B vitamins, it is not a good source of B12, nor does it provide a significant amount of calcium. However, soymilk lowers the risk for heart disease. Soy naturally contains phytochemical, isoflavones, which lowers LDL (Columbia Health, 2012) when taken with a heart healthy meal emphasized by whole grains, fruit and vegetables, and limits high fat and sodium foods (Mayo Clinic, 2012). According to the Food and Drug Administration (FDA), eating about 25 g of soy protein daily may reduce total cholesterol levels as well as LDL levels and thus lessen the risk of heart disease (WebMD, 2000). Soymilk consumption may reduce breast cancer rates for some populations, including post-menopausal women and Asian populations (Columbia Health, 2012).
Since children with galactosaemia cannot consume milk products and receives calcium primarily from soymilk, their calcium levels may lower. They might be at risk of rickets. Calcium supplements will help ensure they receive enough calcium daily. Vitamin D supplements may be recommended to aid the absorption of calcium (Boston Children's Hospital, 2011). Exposure to sunlight helps the body to form vitamin D.
General food restrictions
People with this condition must avoid consumption galactose, thus all milk, milk-containing products, including dry milk and other foods that contain galactose must be eliminated from the diet for life. For example, cheese, ice cream, yoghurt, whey, curds, butter and legumes.
Infants diagnosed with galactosaemia are recommended to be fed with soy formula, meat-based formula or other lactose-free formula (Chad Haldeman-Englert, 2009) instead of breast milk or standard formula as they contain a larger than tolerable amount of galactose.
Apart from dairy foods like milk, cheese, and yogurt, people with galacatosaemia can obtain calcium from dark green vegetables, fortified orange juice, rice, and beans.