Phenylketonuria, also known as PKU, is a rare hereditary condition that causes an amino acid phenylalanine to build up in the human body (NIH, 2020). The PKU is caused by a gene defect which helps to make phenylalanine hydroxylase (PAH) enzyme which is needed to break down phenylalanine into tyrosine. When this enzyme is absent, our body cannot break down the phenylalanine which further leads to phenylalanine accumulation in the body. Since the disorder is inherited, and to inherit this condition, both parents must pass on to their child a defective gene coding for phenylalanine hydroxylase enzyme. The child will show no symptoms of the condition when only one of the parent pass on an altered gene but will only be a gene carrier for the defected gene (Blau, 2016).
If an individual with PKU eats protein-containing foods containing phenylalanine or consumes aspartame (an artificial sweetener containing phenylalanine), a dangerous build-up in the body may develop as the enzyme required to process phenylalanine is absent. That can ultimately lead to severe health complications (Wang et al., 2017). Individuals with PKU be it, babies, kids, and adults have to stick to a diet that restricts phenylalanine for the rest of their lives. Babies are tested for PKU shortly after birth in the US and several other countries. Recognizing PKU immediately can help prevent serious health issues. Symptoms of PKU can vary between mild and extreme. The gravest type of this condition is called classic PKU. In the first few months of your life, an infant with classic PKU can seem natural. When the baby is not treated for PKU during this period, the symptoms may begin to develop like seizures, tremors, stunted development, hyperactivity, skin disorders such as eczema, and a musty smell of hair, or urine (Mayo clinic, 2020).
If the PKU is not diagnosed at birth and treatment is not started early, the condition may cause mental problems and permanent brain damage during the first few months of life in babies and can cause behavioural issues and seizures in older children. A less extreme form of PKU is known as PKU variant. It happens in the babies having too much phenylalanine present in the body. Children might have mild signs and symptoms but may need a special diet to alleviate intellectual deficiencies. Upon the introduction of a specific diet and treatment, symptoms begin to diminish. Individuals with PKU who treat their diet correctly usually have no symptoms.
The key PKU treatment includes consumptions of less amount of protein diet, since protein-based foods contain amino acid phenylalanine. To get optimum protein and the required nutrients important for growth and good health, the individuals are asked to take a PKU formula, a specific dietary supplement for life which do not contain phenylalanine. In each individual with PKU, a safe amount of amino acid phenylalanine varies, and can vary over time (Macleod & Ney, 2010). Generally, it is the aim to ingest just the amount of phenylalanine required for the growth. Through regular review of blood levels of phenylamine, diet records, growth charts of the individuals, the doctor determines a safe amount for the patient (Ney, Blank & Hansen, 2014). Frequent blood tests that monitor levels of phenylalanine as they change over time, especially during spurts of growth and pregnancy in infancy is done and the diet is varied accordingly.
If the PKU is untreated it can lead to permanent damage to the brain, delays in development, and intellectual disability starting from the first few months of life. It may also cause neurological disorders in older children and adults, such as seizures and tremors or physical, mental, and social disorders.
Parenting could be strenuous to anybody, but raising a child with such a hereditary condition like phenylketonuria (PKU) could be very stressful and can harm the mental health and quality of life of the parent. Less social encouragement from family and friends has been recorded to diminish the parent's motivation linked to mental wellbeing. Nonetheless, parents also experience the improved sense of mental health wellbeing and good quality of life as their child with PKU gets older and the child’s growth gets stabilized.
Pregnant women with PKU must be vigilant to adopt the dietary changes. Their babies may be born with serious birth defects and mental retardation if they do not obey the diet. Children born to PKU women who strictly followed the PKU dietary regimens throughout their gestation are typically healthy and do not grow PKU necessarily. The PKU disorder development in an individual depends on both mother and father genes, since PKU is genetically recessive, both parents need PKU genes to induce PKU. An individual will get PKU only if both the defective genes are transferred from both the parents (National Center for Biotechnology Information (US), 2018). Children with PKU typically have light eyes and hair because of the influence of phenylalanine on melanin development. PKU individuals also have very light skin colour which gets burned and tanned exposed to the sun for long.
Even though most children establish a strong desire to being independent at about three years of age, there is less self-control. Also, there will be moments when parents experience anxiety, such as when planning for kindergarten and nursery. Parents get excited and at the same time get anxiety because it's the first time the child spends long periods out of their control. To ensure a healthy diet and care, age-appropriate standards of a child's ability to handle PKU need to be maintained by the parents. Parents play a vital role in delivering all of the day-to-day support needed to handle the child's PKU. Nonetheless, including the child in controlling the PKU can help to empower the child with the ability to make medical choices when he or she gets older and can handle care independently. This would ideally boost commitment to the PKU diet in the long term.
It is a crucial age, as at this point children who retain good metabolic regulation have much greater growth and developmental outcomes than those who do not. Children have no trouble following the PKU diet from four to six years, as guidelines are simple and practical around food and medical formula. Socially, young kids with PKU usually develop although some can experience anxiety about separation. Development stages are usually good in an environment with a well-controlled PKU diet is followed.
While the child is young it is difficult to handle PKU alone, a better understanding of his or her diet and care is important for your child. When others don't, a child may not realize why he or she has PKU, and may believe he or she has done anything to 'deserve' it. Parents can explain that each individual is different and have different characteristics such as eye color and hair color and PKU is something hereditary, not induced.
Scientists today know what phenylalanine foods have in them, and they have developed a special diet for people with PKU. PKU-fed babies get a special formula. It has everything babies need, but with very little phenylalanine, to remain healthy. Foods such as bread and flour are also low in protein (Hansen et al., 2020).
This is a reflection on the experience I had while writing a research assignment on Phenylketonuria. I enjoyed writing this research assignment. I read a few journal articles on this subject to enhance my understanding of the PKU condition. This subject had a lot of literature available online. Writing about the article from both a clinical and a research perspective has been very interesting for me. The positive thing about the condition I have come to learn is that it can be treated by modifying the dietary habits. However, the dietary pattern in infants and young children is very difficult to control, because they are not aware of the condition and therefore do not grasp the condition 's consequences and severity. Section 1 was easy to write, and in given terms, I could address all the key points of the conditions, such as causes, treatments, and consequences.
I found it challenging in section 2 as the main cause of the condition is linked to biochemistry in a very complex way and it is difficult for parents to grasp such technicalities. I tried to make the scientific language simpler for the parents so that they can easily understand the problems and can efficiently help their children to overcome the symptom of the disorder. Overall, the topic was quite easy to understand, as there was no scientific complexity to it. This order has helped me understand the disorder-related symptoms, causes, treatment, and implications. It was interesting to see how the genetic information from the parents can affect the biochemistry of the offspring body leading to disorders like PKU. This assignment helped me to use the scientific terminologies in the future. Also, it will help me to connect the genetic disorders with clinical disorders.
Blau N. (2016). Genetics of Phenylketonuria: Then and Now. Human mutation, 37(6), 508–515. https://doi.org/10.1002/humu.22980
Hansen, J., Hollander, S., Drilias, N., Van Calcar, S., Rohr, F., & Bernstein, L. (2020). Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians. JIMD reports, 53(1), 83–89. https://doi.org/10.1002/jmd2.12106
Macleod, E. L., & Ney, D. M. (2010). Nutritional Management of Phenylketonuria. Annales Nestle [English ed.], 68(2), 58–69. https://doi.org/10.1159/000312813
Mayo clinic. (2020). Phenylketonuria. Retrieved from https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
National Center for Biotechnology Information (US). (1998). Genes and Disease [Internet]. Bethesda (MD).
Ney, D. M., Blank, R. D., & Hansen, K. E. (2014). Advances in the nutritional and pharmacological management of phenylketonuria. Current opinion in clinical nutrition and metabolic care, 17(1), 61–68. https://doi.org/10.1097/MCO.0000000000000002
NIH. (2020). Phenylketonuria. Retrieved from https://ghr.nlm.nih.gov/condition/phenylketonuria
Wang, L., Wang, X., He, B., Cai, N., Li, W., Lou, C., Xin, S., Wu, Q., Yu, W., & Qiang, R. (2017). Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China. Journal of pediatric endocrinology & metabolism: JPEM, 30(12), 1305–1310. https://doi.org/10.1515/jpem-2016-0448
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