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Causes and symptoms of galactosemia

Question:

Discuss About The Human Physiology In Growth And Development?

Galactosemia patients cannot break down galactose and thus, resulting in unhealthy galactose levels which accumulate in the human body. Therefore, galactosemia mainly falls under metabolic disorder since the disease results from lack of proper galactose metabolization. Galactosemia influences around one out of 30,000 to one of every 60,000 infants worldwide and seems to stimulus females and guys similarly ( Adamkin, 2015 p.409). Indications of galactosemia may wind up plainly clear not long after birth. Babies with galactosemia may encounter heaving, liver disappointment, and bacterial contaminations. Extreme bacterial diseases might be deadly. A few babies with a milder type of galactosemia may create waterfalls or blurring of the focal point of the eye. Healthcare claims manifest and expand on the scientifically confirmed advantages which assist in consuming distinct food type.  For instance, it is evident that consumption of low fats in a daily diet more the fiber reaches foodstuffs reduces risks of developing cancer-related diseases.  The primary goal of nutrient claims and content is to emphasize on the specific nutrient relative amount and gives a prompt value communication. The value interactions mostly demarcate on fat-free, good fiber source and low calorie (Freeze, 2013 p. 6940).

The galactosemia disorder can be passed down from one family member to another through autosomal recessive manner. Two copies of GALT gene is always possessed by everybody, one that is acquired from the mother and the other one from the father. Therefore, inheritance through autosomal recessive means that individual receives a copy of the GALT gene that is nonworking from the parents.  Parents of the individual suffering from the disorder have a copy of one working and one nonworking GALT gene hence they are the carriers for galactosemia. Individual who are the carriers of a gene do not show the symptom of the disease. The newborn from the parents who are the carriers have 25% possibility of suffering from the galactosemia and a chance of 50% that the newborn will be a carrier for the disease (Coelho et al., 2015 p.427).

Galactosemia is caused by the mutation of GALT, GALK and GALE genes. These are responsible for triggering instruction for enzymes responsible for processing galactose that is obtained mainly from the diet. Classic galactosemia occurs as a result of the mutation in the GALT gene. Genetic changes in the GALT gene always eliminate enzymes activities that are produced from the GALT gene. Therefore, such activities prevent the normal galactose processing thereby resulting in dangerous sign as well as symptoms of this disorder. Mutation of GALK1 gene result into galactosemia (type 11) while mutation of GALE leads to type 111 of galactosemia (Coelho et al., 2015 p.427).

Inheritance of galactosemia

Difficulty in feeding, lethargy (lack of energy), inability to gain weight (failure to thrive), skin becoming yellow, white eyes as well as bleeding, speech difficulties, and cataract are the key physical symptoms of galactosemia.

The symptoms of the diseases evident at different growth stages mainly manifested as shown in the table below

The table above gives the possible long-term outcomes which one can business among patient units grouped based on the average age as per the diagnosis. In the analysis, the white bars represent defendants’ data for the classic galactosemia that were diagnosed largely before 14 days of life. On the other hand, the shaded bars signify data for the patients’ diagnosed after 14 days of life in line with classic galactosemia. Therefore, from the analysis above it is evident that classic galactosemia has variable symptoms based on the patient growth stage (Coelho et al., 2015 p.427).

It is important to note that there is no preventive mechanism for the galactosemia disease. However, there severe damages associated with the illness can be reduced through the removal of the galactose from the patient diet. Moreover, there are several diagnoses for the disease which include parental, differential as well as newborn screening. The diagnosis begins with the screening and testing of the blood and urine mostly in the infants to check the undetected and uncommon galactosemia in the body (Alam and Sood, 2016 p.1333).

The primary goal of nutrient claims and content is to emphasize on the specific nutrient relative amount and gives a prompt value communication. The value interactions mostly demarcate on fat-free, good fiber source and low calorie (Freeze, 2013 p. 6940). First and foremost, it is important to avoid consumption of the milk products since it is not recommendable for the patients who suffer from the disease. Recommended nutrition intake in the diet is highly encouraged, and these boost the patient’s conditions significantly. The nutrients which play a significant role in the diet include calcium, vitamin D, and other related nutrient compounds. Calcium gluconate plays a fundamental role in treating the disorder. Calcium assists in treating different illnesses which include hypocalcemic tetany, hypocalcemia and hypoparathyroidism and these conditions mainly result from pregnancy and rapid growth. Furthermore, the increase in the plasma and calcium levels can also be treated by calcium gluconate.  However, the treatment of the disease needs to be conducted under the strict supervision and in the presence of a qualified expert in the healthcare. Therefore, this study claims that calcium supplementation is not only meant for the galactosemia but also for other health-nutrient claims (Ezgu, 2016 p. 250). Furthermore, it is important to avoid all the related either hypersensitive or allergic to lactose. It is also necessary to avoid administering of doses through the mouth, as it may lead to kidney stone related diseases. In fact, it important to avoid taking the dose through the mouth since it will also lead to hypercalcemia, hyperparathyroidism, hypercalciuria , bone tumors, ventricular fibrillation, digitalis toxicity, kidney stones, sarcoidosis and kidney disease. Scientific analysis has claimed that calcium supplements also increases unacceptable lead levels and these results from the utilization of dolomite, bone meal and oyster shells in the production of the products (Maratha et al., 2016 p. 984).

Techniques for diagnosing and treating galactosemia

Vitamin D is another important health-nutrient Claims which must be considered as far as the galactosemia. Lack of vitamin D has resulted to the bone mineral related as well as bone pain, osteomalacia, and muscle weakness.  In essence, osteomalacia is a deficiency which manifested in elderly patients, people with problems relating to vitamin D absorption, aluminum-induced bone patients, chronic livers as well as renal osteodystrophy. The control of the disease mainly focuses on the underlying disease cause, and these include orthopedic surgical medication, vitamin D as well as phosphate binding proxies. In the instances in which there is Vitamin D deficiency, evaluated parathyroid and inadequate calcium absorption; there is increased bone resorption as a result of the emerging secretion.  Increased secretion may lead to increased fracture risks and weaken of bones (Coelho et al., 2015 p.427).

Therefore, vitamin D supplementation reduces the fracture and slow down instances of bone loss when administered with calcium. However, it is advisable to avoid administering vitamin D as well as its components if the patient has hypersensitive or is allergic. It is important to evaluate the amount of Vitamin D as over dose might lead to toxic effects. Notably, it is important to use vitamin D cautiously regarding the hyperparathyroidism, sarcoidosis, tuberculosis, kidney disease and histoplasmosis. Also, vitamin D plays an essential role in breastfeeding and pregnant women, but it must be administered in recommended dosages (Tegtmeyer et al., 2014 p. 542). Additionally, it is important to avoid organic meats, which include- heart, pancreas, and liver as these compounds tend to affect patients immensely. Finally, soy products highly recommended for the victims of this disorder (Timson, 2016 p.141).

Conclusion

From the above evidence, a lot of vital information can be derived from the findings. The disease presents a big challenge both for the individual affected as well as the health workers. Being a hereditary nature of the disease, one of the greatest challenges is the effective treatment for the newborns. Additionally, The overview of the evidence demonstrates that screening of the newborn plays a fundamental role in helping to control the impacts that the disease pose to the newborn. Therefore, the government, stakeholders as well as health workers should come together to help reduce the death rates caused by the disease.

References

Adamkin, D.H., 2015. Metabolic screening and postnatal glucose homeostasis in the newborn. Pediatric Clinics of North America, , pp.385-409.

Alam, S. and Sood, V., 2016. Metabolic liver disease: when to suspect and how to diagnose?. The Indian Journal of Pediatrics, 83(11), pp.1321-1333.

Coelho, A.I., Berry, G.T. and Rubio-Gozalbo, M.E., 2015. Galactose metabolism and health. Current Opinion in Clinical Nutrition & Metabolic Care, 18(4), pp.422-427.

Ezgu, F., 2016. Chapter Seven-Inborn Errors of Metabolism. Advances in clinical chemistry, 73, pp.195-250.

Freeze, H.H., 2013. Understanding human psychology disorders: biochemistry leads the charge. Journal of Biological Chemistry, 288(10), pp.6936-6945.

Freeze, H.H., Chong, J.X., Bamshad, M.J. and Ng, B.G., 2014. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. The American Journal of Human Genetics, 94(2), pp.161-175.

Jumbo-Lucioni, P.P., Parkinson, W.M., Kopke, D.L. and Broadie, K., 2016. Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. Human molecular genetics, 25(17), pp.3699-3714.

Maratha, A., Stockmann, H., Coss, K.P., Rubio-Gozalbo, M.E., Knerr, I., Fitzgibbon, M., McVeigh, T.P., Foley, P., Moss, C., Colhoun, H.O. and van Erven, B., 2016. Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis. European Journal of Human Genetics, 24(7), pp.976-984.

Tegtmeyer, L.C., Rust, S., van management, M., Ng, B.G., Losfeld, M.E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J. and Huijben, K., 2014. Multiple phenotypes in phosphoglucomutase 1 deficiency. New England Journal of Medicine, 370(6), pp.533-542.

Timson, D.J., 2016. The molecular basis of galactosemia—Past, present and future. Gene, 589(2), pp.133-141.

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