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Phenylketonuria: Exploring Protein Science and Disease Mechanisms

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Introduction - Phenylketonuria: Protein Metabolism Disorder

The study is based on the exploration of the relationship between protein science and phenylketonuria. The disease that has been chosen here is phenylketonuria. Phenylketonuria is one of the inherited disorders that help in increasing the substance level within the blood, which is mainly called phenylalanine. Phenylketonuria is mainly a building block of an amino acid that is protein. However, this kind of aspect is mainly obtained from the diet. Along with this, this kind of disease or substance is mainly found in some kinds of artificial sweeteners and in all the proteins. Phenylketonuria is mainly an “autosomal recessive” disorder that is mainly caused by both of the genes within alleles for PAH which is “phenylalanine hydroxylase” which is mainly found in 12 chromosomes. In that mechanism, the phenylalanine hydroxylase mainly converts the amino acid into the phenylalanine to another amino acid and mainly tyrosine. The main mechanism of this disease is to break down the structure of the protein cannot be done. The gene mutation in PAH causes this disease. The gene PAH cause for conversation of the phenylalanine hydroxylase that helps in breaking down the phenylalanine into the amino structure. The main mechanism of this disease is to break down the amino acid into tyrosine.

Basic properties of the proteins

The protein structure has two kinds of properties one is based on physical and another one is chemical properties.

Physical properties of protein

The physical properties are based on taste and colour, solubility, colloidal nature, and optical activity. Some of the other physical properties of the proteins are their shape and size. Based on shape and size, it has two types- one is fibrillar and another one is globular. The molecular properties of the protein are based on approx‘5 ? 103 and 1 ? 106”. The colloidal property of the protein shows the Tyndall effect (alevelbiology.co.uk, 2022). The main property of the proteins is that proteins are amphoteric in nature. Another property of the protein is that protein has an Ion binding capacity.

Chemical properties of protein

On the other side, the chemical structure of the protein is mainly based on the hydrolysis that is denoted that proteins are absolutely hydrolyzed. Another chemical nature is that proteins are reacting by involving -COOH groups (Mahmud et al. 2019). The protein also reacts in the presence of -NH2 groups. However, the reaction of protein is involved both in the presence of NH2 and COOH groups. The reaction of protein is mainly involved in the presence of side chain and R groups. In the presence of SH groups, the protein also reacted which is another chemical property of the protein. 

Discussion on the enzymatic fluxes of the disease

Phenylketonuria is a recessive disorder that mainly helps in breaking down the structure of the protein. In this disease mechanism, mainly the "phenylalanine hydroxylase" has taken the main part in the case of conversion of the structure of the phenylalanine to tyrosine and another kind of amino acids. The enzymes mainly work with a presence of a molecule that is mainly called tetra hydro bi protein (BH4) for caring out the chemical reactions (medlineplus.gov, 2022). The phenylalanine flux is determined from the phenylalanine tracer dilution in the plasma and is mainly represented by the entrance of a bold arrow in the pool of free phenylalanine. 

Impact of this disease on protein function, tissue, cell physiology, and organ

The disease Phenylketonuria mainly affects different kinds of body functions. This disease is mainly affecting the tissue structure, cell physiology, protein functions, and organs.

Impact on protein function

As per the statement of Daly et al. (2020), it can be stated that the PKU is mainly restricted to more than 79% of the intake of the synthesis of protein. The PKU that is Phenylketonuria is a vital disorder that easily affects protein functions with the presence of enzymes. In this disease, the elevated blood concentration of Phe mainly helps in considering the impaired transportation of large kinds of amino acids that as LNAAs to the brain from the blood. On the other side, the impairment is mainly believed that the cognitive PKU deficits through this mechanism can reduce the cerebral synthesis of protein. However, this disease is an error, which is inborn and is mainly unable to break down the amino acid structure. Moreover, in this disease, this kind of mechanism has been caused because of the absence of the Phe enzyme that breakdown the phenylalanine into main tyrosine, not alanine. However, it also affects the way protein is processed in the body.

Impact on cell physiology and tissue

In the case of PKU, the gene PKU mainly tells the cells for making an enzyme that helps in breaking down the amino acid in the phenylalanine. The faults in the gene mutation can cause cell problems because the right message cannot be sent (Jin et al. 2020). In PKU, the cells are not able to make the enzymes that help in breaking down the structure of phenylalanine. Due to that reason, this disorder can be built within the tissue and blood. However, that kind of disorder has reduced the synthesis of protein so; it can mainly increase in the bloodstream that can mainly cause damage to the brain. In children, this kind of disorder mainly improves the failure of growth that has been included in the abnormal phenotype. Along with this, the PKU can cause for lowering of the blood performance level. Moreover, it also affects DNA. The metabolic functions within the person cannot be changed. Including those aspects, can build up the toxicity level within the bloodstream of the body. Intellectual development also cannot be done by this disease. Due to that reason, the IQ level within a person cannot be reached above 30 to 40, which may cause behavioural issues.

Impact on organ

Apart from this, also the PKU disease impact raises some complications among adults and children. Mainly in the children, this kind of disease has occurred. Based on having this disease, mainly the phenylalanine level has been increased during pregnancy. Due to that reason, the defects of foetal birth and miscarriage can occur. However, irreversible brain damage has occurred within the brain organs that can bring some intellectual disability within a few months by having this disease. On the other side, it also effects on bringing some neurological problems. All of those neurological problems have been included tremors and seizures. However, some psychological disorders can lead to emotional, behavioural, and social problems for adults and children. Moreover, some developmental problems also can be raised in this health disorder. In the case of the liver, the PKU also affects deeply. For the mechanism PKU the genetic deficiencies are too high which can result in neurotoxicity and elevation of blood Phe within the liver. Along with this, it also affects the neurotransmitters that can result for making dysfunctions in the communication system of neurotransmitters. Through these disorders, also the overall mechanism within the organ can be damaged. 

Current therapies for this disease

Evaluation of the therapies

PKU is a genetic disorder that has been caused for the mutation of genes. For reducing the impact of the gene mainly, some kinds of treatments have been evaluated. All of those therapies mainly included Saproptein therapy, LNAA therapy, GMP therapy, and Enzyme substitutional therapy. Along with this, two other kinds of therapies also have been evaluated that are gene therapy and hepatocyte transplantation.

Saproppterin therapy

By using this kind of therapy mainly the stabilization of the blood Phe level in PKU can be done. Due to that reason, a low level of low-Phelevel can occur (Tamura et al. 2022).

LNAA therapy

By using this kind of therapy mainly the reduction of entering, the Phe in the brain and circulation can be done (Burlinaet al. 2019). Due to that reason, the risk factors of this disease can be reduced.

GMP therapy

By using this kind of theory mainly the increased amount of Phe production can be reduced which can help in reducing the better implementation of the protein substitute (Montanariet al. 2022).

Enzyme substitution therapy

The enzyme substitution therapy helps in breaking down the Phe protein, which helps in lowering the Phe level (Hydery and Coppenrath, 2019). 

Aim of the treatment

The main aim of Sapropterin treatment is to stabilize the Phe level within the blood. The main aim of the LNAA, which is a large neutral amino acid, is to reduce the entering of Phe within the bloodstream. The main aim of this GMP that is glycomacropeptide therapy is to improve the substitute of protein by lowering the entrance of Phe level (Montanariet al. 2022). The main aim of enzyme substitution therapy is to improve the activity of the role of enzymes that helps in the deficiency of the PAH enzyme in the mechanism of PKU.

The efficiency of the treatment

The efficiency of Saproppterin therapy

This therapy has great efficiency in the treatment of PKU. By implementing this therapy, the main cause of the PKU can be reduced. By taking daily pills of Saproppterinmainly the Phe levels within the blood can be reduced (Makukh et al. 2021). Due to that reason, the restoration of the loss of activity of PAH in the PKU activity also can be done.

The efficiency of LNAA therapy

The use of this therapy also gives many benefits in PKU disease. In that case, the high level of these kinds of amino acids for competing for the Phe levels for “seats on the bus”. These kinds of transporters also help in reducing the Phe level, which helps in improving the blood circulation level (MacDonald et al. 2019).

The efficiency of GMP therapy

The implementation of this GMP therapy also gives many impacts. This kind of treatment helps in making better the level of protein substitute (Agostini et al. 2021). Due to that reason, the experts have stated that the products, which are GMP based, are low-the diet based that used in the PKU treatment for the near future.

The efficiency of Enzyme substitution therapy

Enzyme substitution therapy is one of the main therapies that help in breaking down the level of Phe that helps lower the risk factors of PKU (Jameson et al. 2019). Along with this, the application of this therapy helps in converting the non-toxic factors that help in improving the mechanism within the body.

Molecular reason for this treatment

The molecular reaction of Saproppterin therapy

Based on this treatment mainly the reduction of the level of the Phe concentration can be done which helps in increasing the tolerance of phenylalanine in the children and adults. Due to that reason, in the diet of PKU patients, the increment of natural protein can be done (Tamura et al. 2022).

The molecular reaction LNAA therapy

The implementation of this therapy helps in improving the neuropsychological outcomes and helps in relieving the dietary restriction of PKU (Burlinaet al. 2019). On the side, it helps in correcting the biochemical disturbance in the brain that helps in improving neurocognitive mechanisms.

The molecular reaction GMP therapy

The implementation of this therapy helps in addressing the genetic problems and helps in making the DNA sequence incorrect order (Montanariet al. 2022). However, this treatment also helps in taking most of the natural protein that lowers the entrance of Phe in blood.

The molecular reaction Enzyme substitution therapy

The implementation of this therapy helps in joining PAL with the substance PEG, which helps in increasing the therapeutic effects (Jameson et al. 2019). The PEG-PAL helps in converting the Phe in the TCA and mainly in ammonia, which helps in breaking down the substances into non-toxic compounds that are easier for the body mechanism.

Reflection on the future approaches

Key technologies that have been used in the study of protein as CRISPR and nanotechnology

The study of protein is one of the significant studies improving the biomedical sciences. For studying the protein, mainly two types of technologies are highly used. These two types of technologies are mostly included “nanotechnology” and “CRISPR” for studying the protein.


CRISPR technology is primarily known as the Cas9 system. Mostly two kinds of molecules have been used in the changes of mutation within the DNA sequence. The kind of molecules in this technology primarily act as a pair of a structure that is called “molecular scissors” which are mainly used in cutting the two standards of the structure of DNA at an exact location mainly in the genome. Due to that reason, the DNA bits can be removed and added with this. The CRISPR system is consisting of the binding of DNA and the protein cleavage Cas9 and the gRNA that is guided by DNA is initially recognized as the adaptive immune system of bacteria. The technology of CRISPR is mostly used in the editing genes such as the world change. The CRISPR essence is a major way in the case of finding an accurate DNA bit within a cell structure. The action within this technology is mainly divided into three stages. One is the integration of spacer or adaptation. The second one is the primary transcript process of the CRISPR locus or pre-crRNA (ncbi.nlm.nih.gov, 2018). The third one is crRNA maturation. Two kinds of protein that are Cas 1 and Cas 2 mainly help in forming a complex structure that is highly processed for the process of adaptation. The Cas 1-Cas 2 complex structure helps in representing the “information processing” conservation module which is appearing as a quasi-autonomous from the rest of the overall system.


As per the statement of Procyk et al. (2021), the nanotechnology of protein helps in bringing along with the nanotechnology the versatility of the interaction of protein. Protein nanotechnology is a field that is highly emerging that is mainly defining itself. Nanotechnology is embracing the intersection of the science of protein, which naturally exists at the burgeoning Nano scale in the nanotechnology field. The nanotechnology in protein science is mainly referred for the study of the Nano scale protein with mostly the field of expanding the nanotechnology. In the case of that technology, the versatile protein mainly acts as the biomolecules, which are mainly composed of the chains of amino acid that helps in providing the biotechnological functions such as DNA replication and molecule transportation.

Impact of those technologies on future treatments

Impact of CRISPR on future treatments

The CRISPR system is one of the major treatments that help in bringing many impacts to biomedical science. The application of this kind of technology helps in resolving the mutation and helps in introducing the therapeutic genes that are site-specific within the human cell. Due to that reason, this kind of technology is also applied in the treatments of phenylketonuria. The application of this technology in the treatment of phenylketonuria helps in correcting the mutation that is disease causing and alleviating disease-related symptoms. Moreover, the use of this technology also helps in finding the drug target (Kantor et al. 2021). The application of this technology also is a systematic way that is mainly used the “knock out” all of the genes one by one for understanding the complex type of interaction between multiple kinds of genes and proteins for encoding.

Impact of nanotechnology on future treatments

The impact of nanotechnology in protein science is too high helps in bringing a lot of advantages to medical science. The use of nanotechnology helps in applying dentistry and medicine that helps in bringing a significant impact on the treatment, diagnosis, and prevention of the disease. Along with this, the application of nanotechnology helps in leading the emergence of a new kind of field that is mainly called nano-medicine (Papadopoulos and Taghiyari, 2019). Nano medicine is also involved in the investigation of the biological diagnosing, treatment, and problems of this disease. Nanotechnology also helps in diagnosis and improving the significant improvement of dentistry and medicine. Due to that reason, this implementation can give a lot of impact on future treatment by involving a nanometer-scale.

Reflection on molecular aspects of this disease

As per my observation, the PKU has mainly resulted from a kind of deficiency of phenylalanine hydroxylase. The PAH gene mainly spans about more than 90 kb on the 12th chromosome and comprises mainly 13 exons. The PAH is one of the hepatic enzymes that help in catalyzing the phenylalanine hydroxylation to tyrosine by using tetra hydro bi protein that is BH4 like the co-factor. Phenylketonuria is mainly a recessive autosomal inherited disease that is mainly caused for the system of “phenylalanine hydroxylating”. The phenylalanine mainly helps in converting the tyrosine by the enzyme PAH which is mostly located within the liver. The enzyme needs the reduction of the cofactor for the activation of the tetrahydro bio protein. As per my observation, it can be stated that within the disease PKU some errors in the metabolism of amino acids can be done that are mainly caused by the hepatic enzyme and phenylalanine hydroxylase deficiency. In this disease, mainly the enzyme helps in capitalization and the rate step that limits the catabolism of phenylalanine. However, in the mechanism of this disease mainly the mutation of PAH has been done that helps in reducing the activity of PAH and helps in preventing it from the processing of effective phenylalanine1 (Mocanu et al. 2020). However, this disease is mainly caused by chromosome number 12 and the mutation in the PAH gene in the presence of both of the alleles. As per my observation, those kinds of mechanism has been done that helps in accumulating the brain poisoning cells. 

Reflection on the integration of the future of biomedical science

As per the observation of the above evaluation, the future of biomedical science is too high that gives many impacts. The degree in biomedical science is mainly acting as the gateway to working in several kinds of fields that as research, sales, education, hospital, medical practice, and institutional work. The program in biomedical science is mainly interdisciplinary approaches that help in focusing on a process of disease that helps involve biochemical, molecular, organ, and cellular system changes (Cimino et al. 2020). In those recent days, the biomedical sciences help in displaying some of the specific trends that help to continue at least time in the future. These kinds of trends mainly include some of the aspects which are included. The use of some methods that help in generating big data is the main trend. Some of the experimental methods mainly for analysing the individual cell in the population of large cells are one another trend (Colthorpe et al. 2018). However, another kind of trend is computational modelling in the hardest system of biological sciences. Integration of the data, which are “omics” data, is the main trend in biomedical science. Advance understanding of the function and structure of biological molecules and their roles in disease and health is another trend. Considering all the progress that has been recently achieved within this field mainly in nanotechnology will play a vital role in future improvement of the biomedical sciences.


Conclusively, it can be stated that phenylketonuria is a dangerous disease that is mainly caused for the mutation of genes, which is one of the inherited diseases that mainly cause the mutation of the gene. Along with this, it can be also stated that the overall body structure is mainly based on the structure of the protein. The mechanism of the disease shows that the disease is mainly occurred by the mutation of the gene that can reduce the breaking of the protein. Due to that reason, many chromosomal disorders have been evaluated. Improving the chromosomal orders within this technique helps in improving the body mechanism and helps in reducing the negative impact of this disease. From the analysis of this research, it can be stated that the disease is mainly affected the brain and helps in improving the nervous system and liver factors. Along with this, some of the major treatments like sapropterin, LNAA, GMP, and enzyme substitution are used in the treatment of PKU. Several kinds of positive impacts and a large number of efficiencies have come with this disease. Along with this, mainly two types of technologies have been used here that are included mainly the nanotechnology and CRISPR technologies have been used here. By using many impacts have been evaluated that help in improving the treatment process of biomedical science. Some of the molecular reaction of this disease has been stated here that help in evaluating the research aims. Apart from this, it can be also stated that the future of the biomedical sciences is too high and is mainly caused by the implementation of biomedical sciences. Due to that reason, this evaluation is highly significant for the research topic that is protein science by meeting all of the objectives of the research.



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