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A metabolic disease is a condition that interferes with or obstructs the body's natural chemical processes for producing energy to power bodily functions, maintaining healthy tissue, growing, and disposing of waste. As a result, a person's body may contain an imbalance of chemicals like carbohydrates, lipids, or proteins, which impairs or interferes with the regular operation of various tissues and organs. A metabolic disorder called galactosemia interferes with how the body processes the simple sugar galactose. Many foods contain a small amount of galactose, which is basically part of lactose, a larger sugar that is found in dairy products and formulas fed on the babies. For many babies and small children, the milk of the mother, formula and then the milk from cows supply nutrients that are essential to the function and growth. However, those babies that are born with galactosemia lack enough of the enzyme that is responsible for breaking down galactose. The liver usually produces the enzyme, but in cases where the liver fails to produce enough of it, galactose increases in the blood stream, and may lead to serious health problems, especially when the condition is not diagnosed early for treatment (Berry, John and Judith 139-142).
There are several forms of galactosemia, and each of the conditions is caused particular gene mutations and affects varying enzymes that are involved in galactose breakdown. Type1 is the classic galactosemia that is most common and most severe. According to Bernstein and Sandy (285), failure to treat infants with classic galactosemia promptly using a diet with low galactose can lead to life-threatening complications immediately following birth. Those infants that are affected develop difficulties in feeding, lethargy, thriving failure, jaundice, damage of the liver and bleeding abnormality. If very serious, the infant becomes prone to bacterial infections, which in other terms are referred to as sepsis, and can go into shock. The child is at increased risk of delayed development, develops cataract, speech problems and intellectual incapacity. If females are affected, they may develop problems related to reproduction that result from early function loss of ovaries, medically referred to as premature ovarian insufficiency. Type II galactosemia is also known as galactokinase deficiency, while type II is called galactose epimerase deficiency, and each causes different signs and symptoms patterns. Type II is associated with fewer medical complications that type I. although the affected infants develop cataracts, they do not experience many long-term complications. Infants affected by type II galactosemia develop signs and symptoms that range from mild to severe, including cataracts, intellectual incapacity, liver disease, tardy growth and development and problems with the kidney.
Galactosemia is inherited in a pattern that is referred to as autosomal recessive meaning that both gene copies in each cell possess mutations. The parent of a person that has an autosomal recessive condition each has one mutated gene copy although they typically do not portray condition’s signs and symptoms. The mutations in GALK1, GALT and GALE genes lead to galactosemia (Welling et al. 172). These are the genes that are responsible for providing informations for synthesizing essential enzymes whose role is to process galactose that is obtained from diet. The enzymes basically break down galactose into simple sugars, glucose as well as other molecules that are stored or used by the body for energy. Type I galactosemia is caused by GALT gene mutations that abolish or reject the enzyme activity, thereby inhibiting the normal galactose processing, and leading to signs and symptoms that are life threatening. Duarte variant is another form of mutation of the GALT gene that lead to reduced, but not eliminated enzyme activity. Mutations of GALK1 gene results to type II galactosemia, and galactosemia type III is caused by Gale gene mutations. It is very essential to recognize the different treatment approaches for galactosemia including the modification of the diet to limit the quantity of the precursor that is not properly metabolized (Bernstein, Fran and Joanna 47). Gene therapy is an approach that is predicted as the most significant approach as it offers a definitive treatment potential. The approach ought to entail identification of the genes for enzymes that are involved in the metabolic disease and cloning them. Mass quantities of the enzymes can be produced for utilization to replace enzymes, but this strategy has not been used successfully to give a stable expression of active enzymes in the body of humans.
Galactosemia is a metabollic disease that is inherited by an offspring from the parents. It is a rare disease in infants and children. For this paper, the discussion will be focused to a female parent of an infant that has been diagnosed with galactosemia as the mother is core into contact with the baby than a father in most cases. Therefore, the parent needs to understand that the news that the infant has galactosemia mean that it cannot process some sugars (galactose) that are found in the milk. This also means that continued feeding of the infant with milk products such as the mother’s milk, formulas or the cow’s milk, too much of the sugar will build up in the blood,. As a result, the accumulation of the sugar may lead to serious health complications like having difficulties to feed, lack of energy and a failure to grow or gain weight as anticipated. In addition, the skin becomes yellow and the eye become white in color, which is a condition that is known as Jaundice. Moreover, accumulation of the sugar in the blood stream may cause damage to the liver and the kidney, and may result to abnormal bleeding. The affected child may also develop clouding of the eye lens, which a condition referred to as cataract.
It is important to treat galactosemia because if left untreated it can cause death. For this reason, it is very important to know the symptoms of the disease. While it does not cause any symptoms at birth, the infant may portray the yellowing of the skin and whitening of the eyes, diarrhea as well as vomiting immediately. In addition the baby does not gain weight as expected. It is also significant to know that even if a baby with galactosemia is started on dietary restrictions following birth, the incidence of long-term complications remain high and may involve language and speech impairment, delays in both gross and fine motor skills and learning disabilities. Moreover, girls are at an increased risk of developing ovarian failure which leads to reproduction problems.
When an infant is said to be suffering from type I galactosemia, the parent should understand that this is the most common and severe condition form. In addition to type 1 galactosemia, there are types II and III, which resultbecausethe baby does not have sufficient galactokinase or galactose epimerase enzymes that are responsible for processing the sugar from the blood. The three forms of the disease are caused due to mutations of the specific genes that make the associated enzymes. Therefore, it means that a child that is born with any of the three forms of the disease inherits a gene for galactosemia from both parents that are carriers. The term carrier denotes that the parent has a trait for the disease, but does not have the disease itself, and can therefore give the recessive trait to the child. In simpler terms, galactosemia gene defect is a genetic trait that is recessive. For example, if two carriers of the gene have children together, the falty gene is thus passed to their offspring where each parent contribute one allele of the defective gene so that the resulting child has two faulty alleles constituting the gene that causes the disease. For example, when the two carriers have children, for each pregnancy, there will always be a 25% probability that the baby will have the disease, 50% probability that the baby will be a carrier of the defective or mutated gene, and a 25% chance that the baby will be normal.Part 3
A baby that has galactosemia will never be at a position to digest foods that contain galacose properly. It also means that there is no drug or chemical substitute for the enzyme that is absent at this time. Therefore, treatment of galactosemia calls for lactose and galactose to be strictly excluded from the diet. As such, an infant that has been diagnosed with the disease should be simply changed to a formula substitute that contains no galactose or lactose. If care is taken strictly, a child that is born with galactosemia can live a normal life. It is important to always talk to a doctor regarding the dietary restrictions of a child if it has been diagnosed with galactosemia. In case the treatment is started before an infant is 10 days old, the probability of normal growth, intelligence and development increases. It then follows that as a care giver of the affected child, one must be careful not to feed the baby on any milk, products containing milk including dry milk, as well as other foods that have lactose or galactose for the rest of life. The affected infants should be fed with formulas that are free from galactose like Nutramigen or soy formula. Nutramigen is a formula that is hypoallergic, which contains no lactose, galactose or soy. As these affected children grow and learn how to feed themselves, it then becomes the responsibility of the parent to teach them regarding reading product labels so that they are able to avoid those foods that have milk, milk products as well as other foods that contain galactose. In addition, the affected children should be given calcium supplements to prevent calcium deficiency, because normal children often get their calcium from milk (Bernstein and Sandy 287). It is unfortunate that there lacks uniform directions offered by clinics to the parents and patients regarding the recommended diet, especially for type I galactosemia. It is therefore, important that families collect as much information as possible and work with their clinics to be able to make the best decisions that they can for their affected children.
Bernstein, Laurie E., and Sandy van Calcar. "The Diet for Galactosemia." Nutrition Management of Inherited Metabolic Diseases. Springer International Publishing, 2015. 285-293.
Bernstein, Laurie E., Fran Rohr, and Joanna R. Helm. Nutrition Management of Inherited Metabolic Diseases. Springer International Publishing, 2015.
Berry, Gerard T., John Walter, and Judith L. Fridovich-Keil. "Disorders of galactose metabolism." Inborn metabolic diseases. Springer, Berlin, Heidelberg, 2016. 139-147.
Welling, Lindsey, Laurie E. Bernstein, Gerard T. Berry, Alberto B. Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald. "International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up." Journal of inherited metabolic disease 40.2 (2017): 171-176.
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