Nursing Care Plan (NCP) for Phenylketonuria (PKU)
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Outline
Lesson Objective For Nursing Care Plan (NCP) for Phenylketonuria (PKU)
- Understanding Phenylketonuria (PKU):
- Define PKU as a rare inherited metabolic disorder characterized by the inability to metabolize phenylalanine, an amino acid found in protein-containing foods.
- Recognize the genetic basis of PKU and its impact on enzyme function.
- Epidemiology and Inheritance:
- Understand the prevalence of PKU and its mode of inheritance, emphasizing autosomal recessive transmission.
- Identify the risk factors for having a child with PKU and the importance of genetic counseling.
- Clinical Manifestations:
- Recognize the clinical manifestations of PKU, including intellectual disabilities, developmental delays, and neurological symptoms, if not managed through dietary restrictions.
- Diagnostic Methods:
- Explore the diagnostic methods for PKU, including newborn screening tests that detect elevated phenylalanine levels.
- Understand the importance of early diagnosis and intervention to prevent adverse outcomes.
- Management and Dietary Restrictions:
- Outline the principles of management for PKU, emphasizing the lifelong need for a phenylalanine-restricted diet.
- Recognize the role of specialized medical formulas and dietary supplements in meeting nutritional needs while minimizing phenylalanine intake.
Pathophysiology of Phenylketonuria (PKU)
- Deficiency of Phenylalanine Hydroxylase:
- Phenylalanine hydroxylase is responsible for converting the amino acid phenylalanine into tyrosine in the liver.
- Accumulation of Phenylalanine:
- Due to the enzymatic deficiency, phenylalanine, an essential amino acid found in protein-containing foods, accumulates in the bloodstream.
- Elevated phenylalanine levels can lead to neurotoxic effects, especially on the developing brain, if not managed through dietary restrictions.
- Crossing the Blood-Brain Barrier:
- Phenylalanine can cross the blood-brain barrier, leading to increased concentrations in the central nervous system.
- High levels of phenylalanine in the brain can interfere with normal neurotransmitter synthesis, particularly dopamine, resulting in neurological symptoms.
- Neurological Implications:
- Elevated phenylalanine levels can cause intellectual disabilities, developmental delays, and neurological symptoms such as seizures.
- The impact is particularly significant during the critical period of brain development in infancy and early childhood.
- Dietary Management and Phenylalanine Restriction:
- The primary approach to managing PKU is a lifelong phenylalanine-restricted diet.
- Dietary management involves limiting phenylalanine intake from protein-containing foods while ensuring adequate intake of other essential nutrients through the use of specialized medical formulas.
Etiology of Phenylketonuria (PKU)
- Genetic Basis:
- PKU is an autosomal recessive genetic disorder, meaning that an individual must inherit two mutated copies of the phenylalanine hydroxylase gene (PAH) to express the disorder.
- Both parents must be carriers of the mutated gene for there to be a chance of having a child with PKU.
- Mutation in the Phenylalanine Hydroxylase Gene:
- The underlying cause of PKU is a mutation in the PAH gene, located on chromosome 12.
- This mutation results in a deficiency or absence of the enzyme phenylalanine hydroxylase, which is essential for the metabolism of phenylalanine.
- Autosomal Recessive Inheritance:
- Individuals with one normal copy and one mutated copy of the PAH gene are carriers and typically do not manifest symptoms of PKU.
- Offspring of carrier parents have a 25% chance of inheriting two mutated copies, leading to the expression of PKU.
- Heterozygote Advantage:
- The carrier state of PKU may provide a heterozygote advantage in certain populations by offering protection against certain infectious diseases, such as toxoplasmosis.
- This advantage contributes to the persistence of PKU gene carriers in populations.
- Genetic Testing and Carrier Screening:
- Genetic testing can identify carriers of the mutated PAH gene and individuals with PKU.
- Carrier screening is important for at-risk couples to assess the likelihood of having a child with PKU and to make informed family planning decisions.
- PKU is primarily caused by a genetic mutation leading to a deficiency or absence of the enzyme phenylalanine hydroxylase.
Desired Outcomes of Nursing Care Plan (NCP) for Phenylketonuria (PKU)
- Maintain Phenylalanine Levels within Target Range:
- Regular monitoring and adjustment of the phenylalanine-restricted diet to maintain blood phenylalanine levels within the target range.
- Prevention of elevated phenylalanine levels that could lead to neurotoxic effects, particularly during critical periods of brain development.
- Normal Growth and Development:
- Ensure normal growth and development, including meeting developmental milestones and achieving cognitive milestones appropriate for the individual’s age.
- Early identification and intervention for any developmental delays.
- Prevent Neurological Complications:
- Minimize or prevent intellectual disabilities, seizures, and other neurological complications associated with untreated or poorly managed PKU.
- Preserve optimal brain function and cognitive abilities.
- Adherence to Phenylalanine-Restricted Diet:
- Encourage and support lifelong adherence to the phenylalanine-restricted diet, promoting awareness of the importance of dietary management.
- Foster a collaborative approach between healthcare providers, individuals with PKU, and their families to ensure successful dietary compliance.
- Psychosocial Well-being:
- Support psychosocial well-being by addressing the emotional and social aspects of living with PKU.
- Facilitate access to support groups, educational resources, and mental health services to enhance overall quality of life.
Phenylketonuria (PKU) Nursing Care Plan
Subjective Data:
- Hyperactivity
- Behavioral or emotional problems
Objective Data:
- Fair skin and hair, blue eyes
- Slow growth
- Musty odor of the urine, skin or breath
- Seizures
- Skin rash (eczema)
- Microcephaly
Nursing Assessment of Nursing Care Plan (NCP) for Phenylketonuria (PKU)
When conducting a nursing assessment for an individual with Phenylketonuria (PKU), it’s essential to focus on dietary management, developmental milestones, and potential complications.
- Dietary Assessment:
- Review the individual’s dietary habits, including adherence to the phenylalanine-restricted diet.
- Assess knowledge and understanding of food choices, portion control, and the importance of avoiding high-phenylalanine foods.
- Phenylalanine Monitoring:
- Collaborate with the healthcare team to monitor blood phenylalanine levels regularly.
- Evaluate the individual’s understanding of the importance of phenylalanine monitoring and compliance with scheduled blood tests.
- Growth and Development:
- Monitor growth parameters, including height, weight, and head circumference in pediatric patients.
- Assess developmental milestones to identify any delays or concerns that may require early intervention.
- Nutritional Status:
- Evaluate overall nutritional status, including micronutrient levels.
- Collaborate with a registered dietitian to address nutritional needs and assess the use of medical formulas or supplements.
- Neurological Assessment:
- Monitor for signs of neurological complications, such as intellectual disabilities or seizures.
- Assess cognitive function and behavior, especially in pediatric patients, to identify any changes or concerns.
- Psychosocial Assessment:
- Evaluate the psychosocial impact of living with PKU, including emotional well-being and social interactions.
- Assess the individual’s and family’s coping mechanisms and support systems.
- Adherence to Treatment Plan:
- Determine the individual’s adherence to the prescribed treatment plan, including the phenylalanine-restricted diet, medical formulas, and supplements.
- Identify any barriers to adherence and provide support or interventions as needed.
- Educational Needs:
- Assess the individual’s and family’s understanding of PKU, its genetic basis, and the importance of lifelong management.
- Identify educational needs and provide resources or referrals for additional support.
Nursing Interventions and Rationales
- Assess skin for rash
Patients with PKU often have eczema that is difficult to control.
- Perform heel stick diagnostic test after birth as ordered
Heel sticks are done on newborns to diagnose PKU. This should be done in a timely fashion, as certain infant formulas contain phenylalanine.
- Monitor serum lab results
PKU is usually diagnosed within a few weeks of life. Make sure parents are aware if their newborn has received a positive test result.
Monitor patient for elevated levels of phenylalanine routinely and if symptoms appear
- Inform parents/caregivers of appropriate foods and formulas to give
Special formulas will be required that are phenylalanine free. Refer to dietitian for guidance.
Foods to avoid:
High protein foods, such as milk, dairy products, meat, fish, chicken, eggs, beans, and nuts.
- Provide safety for patient with seizures (seizure precautions)
Patients with high levels of phenylalanine may have convulsions or seizures. Safety is important to prevent injury. Provide cribs and make sure rails are up.
- Monitor growth and development
Children with PKU often have slow growth and development. Monitor for changes in growth or signs that developmental milestones are not being met.
- Administer medications as necessary
Sapropterin is an approved medication that has been found to lower phenylalanine levels in combination with special diet. It is important, however, that families recognize that dietary changes should be adhered to, regardless of medication use.
- Provide patient and family education regarding diet, safety and disease process
Maintaining low phenylalanine diet will be a lifelong requirement. Make sure patients’ families understand how to read labels, make healthy diet choices and provide support as necessary
Safety should be stressed, especially in situations where patient may have convulsions or seizures
Evaluation of Nursing Care Plan (NCP) for Phenylketonuria (PKU)
- Blood Phenylalanine Levels:
- Regularly assess blood phenylalanine levels to ensure they are within the target range.
- Evaluate the effectiveness of dietary management in maintaining metabolic control.
- Growth and Developmental Milestones:
- Monitor growth parameters and developmental milestones regularly.
- Evaluate any improvements or concerns related to growth and development and adjust interventions accordingly.
- Adherence to Treatment Plan:
- Assess the individual’s adherence to the phenylalanine-restricted diet, use of medical formulas, and compliance with prescribed supplements.
- Identify any barriers to adherence and provide additional support or education as needed.
- Psychosocial Well-being:
- Evaluate the impact of psychosocial support interventions on emotional well-being and social interactions.
- Assess coping mechanisms and identify any changes or challenges in the psychosocial aspect of living with PKU.
- Educational Understanding:
- Evaluate the individual’s and family’s understanding of PKU and its management.
- Assess the effectiveness of educational interventions and provide additional resources or reinforcement as needed.
References
- https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308
- https://www.healthline.com/health/phenylketonuria#treatments
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Transcript
Let’s work on the care plan for phenylketonuria or PKU. PKU is an inherited disorder in which the body cannot metabolize alanine. You know, the amino acids with peanut alanine levels get too high. It can cause intellectual disability, brain damage or death. So the nursing considerations that we want to think of. So we want to make sure that we do a lab draw. That’s what is called a heel stick test. We also want to do some diet education. Remember, that our outcome is for the patient to have optimal cognitive functioning, the patient and the family caregiver should be educated on the diet. In the prevention of symptoms. The patient is going to maintain optimal learning ability, and we want the patient to be free from injury. Remember, most cases can be managed with diet. We want to avoid foods high in alanine.
So some symptoms, these are some subjective data of how the patient is going to present to us. This is another one of those conditions that is diagnosed pretty early on because the test is one of those first blood tests that’s performed when a newborn is brought into the world. So there’s going to be complaints of hyperactivity and behavioral or emotional problems. These patients tend to be very impulsive. Okay. So some objective things that we’re going to notice when we assess these patients Okay, we are going to notice that they have very fair skin, blue eyes.
They are going to have slow growth, and a musty odor. That odor may also be in their skin or in their breath. These patients are prone to seizures. They’re going to have skin rash or eczema. And finally, we may notice a microcephaly or small head with these patients. So nursing consideration, what are some things that we want to intervene? How are we going to intervene with these patients? Well, let’s first assess. Let’s assess their skin because of that eczema. We’re going to assess for rash, okay? These patients with PKU oftentimes will have eczema, and it’s very difficult to control.
We’re going to perform a heel stick diagnostic test after birth. Remember, that’s one of the first blood test. So that is called a heel stick. And pretty much the heel sticks are done on the newborn; it’s done with every newborn and it’s for the diagnosis of PKU. And usually it’s done in a timely fashion because certain formulas, like supplemental infant formulas, contain phenylalanine. So we want to make sure we get that diagnosed early on. We want to monitor the labs, their results. So, we want to monitor labs. The reason why we want to do a good monitoring of their labs is because PKU is diagnosed. The first few weeks of life, parents are to be aware as soon as the diagnosis of PKU is made. So that way they can make certain adjustments with either breast milk or certain formulas that contain phenylalanine and make sure we inform the parents and caregivers, appropriate foods and formulas to give special formulas are required. So they need special formulas.
We want to refer to our dietician for guidance. These are some foods to avoid: we want to avoid foods with high protein that are going to be milk, dairy, meat, fish, chicken, eggs, beans, nuts. We want to avoid these in these patients with PKU. Here’s the complete care plan. And these are the key points. PKU is inherited. The body cannot metabolize phenylalanine. The result of this is either brain damage or death. Okay? Some subjective things that the patient will present with, they are going to be hyperactive. So hyperactivity also, they’re going to have some behavior or emotional problems. And we’re going to observe when we assess some objective things: the patient is going to exhibit slow growth. They’re going to be prone to seizures, eczema, and microcephaly. Remember these patients can also have fair skin, blue eyes. The heel stick test is how we diagnose phenylalanine. This is drawn early on in the first 24 hours or so after the patient has taken some protein into their diet in the form of breast milk or formula diet education is very important. Most cases of PKU can be easily managed with diet control. Remember that we want to avoid a lot of foods that contain protein, cheese, eggs, soy beans, chicken, beef, pork and fish. These things are things that we want to avoid with these patients.
We love you guys; go out and be your best self today. And, as always, happy nursing.
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