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BIO 3800 - Galactosemia : A Genetic Disorder

   

Added on  2020-03-01

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Galactosemia – A Genetic Disorder of Carbohydrate MetabolismAuthor’s NameInstitutional AffiliationDate

About GalactosemiaGalactosemia is a genetic disease which inhibits the systemic break down of galactose in body.It occurs due to the absence of the three enzymes namely Galactose-1-phosphateuridylyltransferase (GALT),Galactokinase (GALK) and UDP-glucose 4-epimerase (GALE) (1).Of the three variants, the clinical galactosemia is the most alarming one. These enzymes areessential for breaking down glucose or galactose in the body. Increased amount of galactose inthe body could have severe consequences on the health of the patients such as liver diseases,cataracts, brain damage or even death. The symptoms of the diseases could be seen in the initialdays of the birth of a new born baby itself. This disease is curable with consuming diet free ofgalactose and lactose. However, it can cause nutritional deficiency with so many restrictionsimposed on the food. These sugars are present in many foods, so as soon as the disease isidentified, dieticians or nutritionists recommend a special diet to balance out the deficiency. Inthe meanwhile, regular blood tests keep the metabolite levels under check. But it requires manytests to examine the speech, vision, neurological, brain, liver and other body parts to monitor theprogress of the disease in the body. PrevalenceGalactosemia is a rare genetic disease and its incidence rate varies across the world. Theincidence rate varies from 1:19,000 to 1:44,000 in Europe and the US (2). However, in Asians,the disease is seen to be very uncommon while Irish people tend to have the maximum numberof cases of the same.

Genetic MutationResearchers have identified various types of the disease depending on the mutation of the gene inquestion. These have been explained in an elaborate manner below:a.Classicgalactosemia or Type 1: This is probably the most common and severe version ofthe disease. If suffering infants aren’t put on a low-galactose diet promptly, there are fairchances of death within a couple of days after the birth. The symptoms include lethargy,feeding difficulties, no weight gain, jaundice, liver damage, and abnormal bleeding,bacterial infections, and shock (3). Such patients could potentially be under increased riskof speech and vision difficulties. Female patients are likely to face complications duringreproduction. In this type, the erythrocyte GALT enzyme activity is very low orcompletely absent, but the galactose and erythrocyte galactose-1-phosphate levels areincreased and hence the patients succumb to the increased risk of diagnosed with fatal E.coli sepsis and other long complications. Hence in this case, patients need immediatemedical supervision before the situation worsens. Nevertheless, the patient must be puton strict diet. Ib.Galactokinase deficiency or Type 2: It occurs due to the absence of galactose kinase.Herein, the health complications are comparatively less than the type 1. The sufferinginfants may get affected by cataract but are likely to avert long term severe healthcomplications (3). Nevertheless, the patients need to be examined before confirming asincidence of this is pretty low. c.Type 3: It occurs due to the absence of UDP-galactose 4-epimerase enzyme. It is veryrare and can be categorized in generalized form and milder peripheral form (4). If leftuntreated, the sufferers of the generalized form are likely to develop cataracts during the

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