Phenylketonuria (PKU), less commonly known as phenylalanine hydroxylase deficiency, is the most common inborn error of amino acid metabolism. Show
What is Phenylketonuria?
PathophysiologyIn most patients, the classic type of PKU involves a deficiency of PAH that leads to increased levels of phenylalanine in the plasma (>1200 µmol/L; reference range, 35-90 µmol/L) and to excretion of phenylpyruvic acid (approximately 1 g/d) and phenylacetic acid in the urine.
Statistics and IncidencesPKU frequency varies by population.
Clinical ManifestationsMost individuals with phenylketonuria (PKU) appear normal at birth. Fair skin and hair due to impairment of melanin synthesis.
Assessment and Diagnostic FindingsMost states require newborns to undergo a blood test to detect the phenylalanine level.
Medical ManagementDietary treatment is required; treatment consists of dietary restriction of phenylalanine often with tyrosine supplementation.
Pharmacologic ManagementPatients who refuse dietary treatment may benefit to some degree from consuming large neutral amino acids.
Nursing ManagementNursing care for a child with PKU involves the following: Nursing AssessmentAssessing a child with PKU should include:
Nursing DiagnosesBased on the assessment data, the major nursing diagnoses are:
Nursing Care Planning and GoalsThe nursing care planning goals for a child with phenylketonuria are:
Nursing InterventionsThe nursing interventions for a child with PKU are:
EvaluationGoals are met as evidenced by:
Documentation GuidelinesDocumentation in a child with PKU include:
Practice Quiz: PhenylketonuriaHere’s a 5-item quiz for Phenylketonuria study guide. Please visit our nursing test bank page for more NCLEX practice questions. 1. When newborns have been on formula for 36-48 hours, they should have a: A. Screening for PKU. 1. Answer: A. Screening for PKU.
2. A new mother has some questions about phenylketonuria (PKU). Which of the following statements made by a nurse is not correct regarding PKU? A. A Guthrie test can check the
necessary lab values. 2. Answer: D. The effects of PKU are reversible.
3. Janae, who has PKU, just had a convulsion; which of the following would be the lowest priority when caring for her? A. Observing and taking down data on all seizures. 3. Answer: C. Assessing for signs and symptoms of increased intracranial pressure (ICP).
4. A female child with PKU, age 6, is brought to the health clinic for a routine checkup. To assess the child’s vision, the nurse should ask: A. “Do you have any problems seeing different colors?” 4. Answer: D. “How are you doing in school?”
5. Hydrocortisone cream 1% is given to a child with eczema. The nurse gives instruction to the mother to apply the cream by? A. Apply a thin layer of cream and spread it into the area thoroughly. 5. Answer: A. Apply a thin layer of cream and spread it into the area thoroughly.
Which assessment would the nurse prioritize for a newborn with Down syndrome?Assessment of a child with Down syndrome include: Physical assessment. The nurse should perform a thorough, systemic, head-to-toe assessment of the newborn.
Which assessment question would the nurse ask the parents of a 1 year old client to assess language development?"Does your child say three to five words?" The nurse would expect that a 1-year-old client is able to say three to five words; therefore, this is an appropriate question for the nurse to include when assessing language development.
Which family history would the nurse recognize as a risk factor for an infant developing hypertrophic pyloric stenosis?Caucasian babies are more likely to develop pyloric stenosis than other races. Family history. Sometimes, pyloric stenosis runs in families. Siblings of children with the condition carry a 30 times greater risk than the general population.
Which action would the nurse take to assist parents with bonding immediately after birth?Nurses can promote a positive bonding and attachment experience by encouraging contact between the mother and newborn, thereby facilitating a positive emotional mood. Breastfeeding during the first postpartum hour is one of the best ways to promote maternal-newborn bonding (McLeod, 2009).
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