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12 pages/≈3300 words
18 Sources
Health, Medicine, Nursing
Research Paper
English (U.S.)
MS Word
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Phenylketonuria (PKU) Disease: Inborn Error (Research Paper Sample)


1. A detailed description of the diseas: (explaining what it is- which organ systems are affected by functional and structural changes. Detailing the symptoms according to their chronological progress & discussioning long term complication.
2. Explain the significant causative factors - consider physical/mental/emotional/nutritional Factors. Where applicable for the disease, including the following: Where applicable to the disease
a) Contributory causes (Dietary, Environmental, Addictions)
b) Specific causes (infection, poision, injury)
c) Predisposing cause (hereditary, genetic, congenital)
3. A discussion of the specific nutritional reccomendation invloved in controlling , preventing and/or treating the disease, specifically WHY and HOW dietary factors are implicated in the condition.
a) Discuss the role of a) Macro and b) Micro-nutrients for ameliorating the condition. For ex. a) the importance of protein or fatty acids for specific organ systems with guidance regarding sources and dial required amounts, serving and portion sizes.
b) The role of therapeutic doses of Vitamins/Mineral for balancing cellular functions of the affected organ systems. eg.: the role of Mg/K/Ca in Neurological or CV's disease. Include main food sources of the listed nutrients.
4. A one page, point form summary of the previously detailed dietary protocol and supplement recommendation.
a) Dietary: Summarize the approximate daily requirement for caloric, protein, CHO and fat intake or restrictions; The number of servings of vegetables, fruits, proteins, COH, oils, nuts & seeds, legumes dairy substitutes: Provide guidance on the doses of the recommend therapeutic supplements in appropriate units.
Eg. Ca - 1000mg elemental amount/day/or 250 mg with breakfast and 250 mg with dinner.
Please consider your clients compliance and prioritize your recommendation for fast and effective symptom ameliorations and the long term correction of the causative factors.
The whole report needs to be referenced using appropriate APA format, both in text as a well as including a bibliography/reference list. APA citation format is required for ALL references.
All references must be credible/ published work




Institutional Affiliation

Phenylketonuria (PKU) is an inborn error on the metabolism of amino acids that can be detected during the first days of birth if appropriate blood testing is carried out on the child. There are also different terms that are used to refer to phenylketonuria condition. Such include Classical Phenylketonuria, Hyperphernylalanemia, Phenylalaninemia, Folling Disease, and Phenylalanine Hydroxylase Deficiency. PKU is characterized by the absence of Phenylalanine Hydroxylase enzyme that is involved in the processing of one of the essential amino acids in the body called phenylalanine. Phenylalanine amino acids are present in most of the protein foods that we take. Amino acids are the building blocks of proteins that are involved in the growth and development of different cells in the body. Under ordinary circumstances, phenylalanine is supposed to be converted to a different form of amino acid that is called tyrosine that is used by the body in growth and development. However, if it occurs that the enzyme (phenylalanine hydroxylase) is not in the body, then phenylalanine will not be converted into its appropriate form and it will instead accumulate in the blood which will later affect the brain tissues.
After birth, the symptoms that are associated with PKU cannot be observed at first. As mentioned earlier, the condition can be detected if one carries out a blood test of the newborn. Given that the disease cannot be easily detected, the National Human Genome Research Institute reports that most of the hospitals located in the US carry out a blood test on the newborns to ensure that there is an early diagnosis which will lead to early treatment. In most of the instances, infants suffering from PKU appear to be abnormally drowsy and they experience difficulties when they are feeding. The untreated infants also appear to be lightly pigmented with light eyes, hair and even the skin. This is due to the high levels of phenylalanine in the body, they will interfere with the chemical that is responsible for maintaining melanin. Rashes can also be observed on the skin of the infants and it is accompanied by blistering, itching and redness on the areas that have been affected. In addition, developmental retardation is observed in children with PKU who have not gone through treatment. The average IQ of the children who are untreated in most cases is less than 50.
The main organ affected by the disease is the brain and therefore infants with PKU can suffer from mental retardation that progressively becomes severe. There are also additional neurologic symptoms that can accompany the infants such as the occurrence of seizures due to uncontrolled electrical activities that take in the brain, hyperactivity due to abnormally increased activities, difficulties in coordination which causes a strange style of walking also called gait. Due to the presence of the by-products of phenylalanine in the urine and sweat of the infant, one can smell a strange odor. There are also cases of PKU that are less severe referred to non-PKU hyperphenylalaninemia or variant PKU. Patients who experience symptoms that are less severe have a lower risk of brain damage. Women who suffer from PKU can have uncontrolled phenylalanine levels and they give birth to babies who are at a high risk of intellectual disability due to lower IQ, a low birth weight, heart-related problems and in some cases slow growth. The untreated females also show spontaneous abortions or delays in the fetal growth, a condition that is referred to as intrauterine growth retardation.
The National Human Genome Research Institute reports that PKU condition occurs in 1/10,000-15,000 newborns. It can also be inherited from the parents. In cases of inheritance...

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