Human Physiology in Growth and Development: Galactosemia Analysis

This report provides a comprehensive analysis of galactosemia, a genetic metabolic disorder affecting infants and adults. It begins with an introduction to the disease, explaining that it is caused by the inability to break down galactose, leading to unhealthy levels in the body. The report then delves into the genetic inheritance of the disorder, explaining that it is passed down through an autosomal recessive manner. The causes of galactosemia are discussed, highlighting mutations in the GALT, GALK, and GALE genes. The report details the symptoms of galactosemia in both infants and adults, comparing the stages and symptoms at different growth stages. Prevention and diagnosis methods are also discussed, including newborn screening and dietary recommendations. These recommendations emphasize avoiding milk products and incorporating calcium and vitamin D supplements. The report concludes by emphasizing the challenges the disease poses and the importance of newborn screening and government support to reduce mortality rates. References from various scientific journals support the information presented.

HUMAN PHYSIOLOGY IN GROWTH AND DEVELOPMENT 1
Human Physiology in Growth and Development
Galactosemia Analysis
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Introduction
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. Health 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).
Genetic principle
Inheritance
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

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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).
Causes of Galactosemia
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).
Symptoms 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.
Comparison of Stages and Symptoms between Infants and Adults
The symptoms of the diseases evident at different growth stages mainly manifested as
shown in the table below

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The table above gives the possible long-term outcomes which one can obtain 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).
Prevention and Diagnosis

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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).
Dietary Recommendations
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

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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).
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

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(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, 62(2), pp.385-409.

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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 glycosylation 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 Scherpenzeel, 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.

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