Phenylketonuria
Included In This Lesson
Study Tools For Phenylketonuria
Outline
Overview
- Impaired metabolism of essential amino acid phenylalanine.
- Occurs 1 in every 15,000 live births in the United States
- Associated with cognitive and behavioral deficits if untreated.
Nursing Points
General
- Autosomal recessive disorder
- Lacking the enzyme needed to break down Phenylalanine
- Phenylalanine builds up in the body
- Toxic levels of phenylalanine develops (levels > 20 mg/dL)
- Negatively affects growth and development
- Diagnosis
- Routine screening required
- Guthrie Test- Heel prick
- Performed at birth
Assessment
- Growth Failure
- Digestive problems
- Irritability
- Delayed cognitive development
- Seizures
- Hyperactivity & erratic behavior
Therapeutic Management
- Early detection!
- Detection and treatment within the first month of life gives best outcomes.
- Phenylalanine restricted diet
- Therapeutic range
- Needed for growth
- Avoid toxicity
- Foods to avoid
- Dairy, Meat, Fish, Chicken, Eggs
- Artificial sweeteners (diet products)
- Therapeutic range
- Nutritional Supplements
- Tyrosine
- Protein based nutrients.
- Long-term Management
- Monitor developmental milestones
- Non-compliance is common in adolescent years
Nursing Concepts
- Nutrition
- Human Development
- Health Promotion
Patient Education
- Remind parents that PKU is not a food allergy. Eating restricted foods will not cause a typical “reaction”.
- Notify provider if child is not reaching milestones
ADPIE Related Lessons
Related Nursing Process (ADPIE) Lessons for Phenylketonuria
Transcript
Hi guys, in this lecture we are going to look at the diagnosis Phenylketonuria or PKU.
Phenylketonuria is a diagnosis that affects metabolism. It is an autosomal recessive disorder so both parents have to have the trait for the child to have the disease. What’s happening with that the child doesn’t have the enzyme that they need to break down an amino acid called Phenylalanine. When this Phenylalanine builds up in the system you end up with toxicities that can cause long term cognitive and behavioral problems.
If a child has PKU, the first thing you’re going to see digestive problems and they may have trouble meeting growth milestones and gaining weight like expected. But as the phenylalanine builds up in the system you’ll see more toxicity issues like developmental delays and behavioral issues.
For adolescents the behavioral issues tend to look like really erratic, unpredictable and sometimes unsafe behavior
So the most important thing for therapeutic management is early detection. If we can detect this in the first month of life outcomes are actually really good because we can prevent toxicity from happening.
The way that we do this is to screen all newborns with a test called the Guthrie test. This is done by getting blood from a heel stick. The test looks to see how much Phenylalanine is in their blood.
If it is determined that a child does have PKU then the primary treatment is a lifelong restricted diet, avoiding foods that are high in Phenylalanine. These are meat, eggs and dairy products. They also need avoid artificial sweeteners because phenylalanine is found in aspartame.
One issue with this restricted diet is that we can’t eliminate phenylalanine completely because it’s is needed in appropriate amounts for growth and development. So we have to calculate how much they can have based on their age and weight. They will also need supplements to help compensate for some of the nutrients that will be missing from this restricted diet
As is the case with any diet, compliance can become a really big issue and this is particularly true in the adolescent years where it’s really difficult to avoid things like hamburgers and pizza. It’s really important to let parents and kids know that there won’t be any obvious outward sign that toxicity. It’s not like an allergy where you can quickly tell you’ve had too much, it’s just sort of quietly building up toward toxicity.
When you are providing nursing care for a patient who has PKU your priority nursing concepts are going to be Nutrition, Human Development and health promotion. The health promotion part is super important for this patient group because again the primary goal is to detect early on in life so we need to be following up with families and making sure that all newborns are screened.
Okay guys that’s it for a lesson on phenylketonuria. It’s pretty straightforward. So, let’s summarize our key points.
PKU is an autosomal recessive disorder where the child is missing the enzyme needed to break down phenylalanine.
When this happens phenylalanine levels increase and there is a risk for toxicity.
This toxicity negatively affects cognitive development and can cause developmental delays as well as behavioural problems.
To prevent this from happening, early detection is super important so that means screening all newborns with the Guthrie test.
Treatment is all about managing your diet and eliminating those foods that are high phenylalanine.
That’s it for our lesson on Phenylketonuria. Make sure you check out the resources attached to this lesson. Now, go out and be your best self today. Happy Nursing!
review all the things
Concepts Covered:
- Cardiovascular
- Emergency Care of the Cardiac Patient
- Cardiac Disorders
- Shock
- Shock
- Disorders of the Posterior Pituitary Gland
- Endocrine
- Disorders of Pancreas
- Disorders of the Thyroid & Parathyroid Glands
- Hematology
- Gastrointestinal
- Upper GI Disorders
- Newborn Complications
- Liver & Gallbladder Disorders
- Lower GI Disorders
- Multisystem
- Neurological
- Central Nervous System Disorders – Brain
- Renal
- Respiratory
- Urinary System
- Respiratory System
- Noninfectious Respiratory Disorder
- Test Taking Strategies
- Medication Administration
- Respiratory Disorders
- Pregnancy Risks
- Labor Complications
- Fundamentals of Emergency Nursing
- Factors Influencing Community Health
- EENT Disorders
- Basics of Chemistry
- Adult
- Emergency Care of the Neurological Patient
- Acute & Chronic Renal Disorders
- Emergency Care of the Respiratory Patient
- Respiratory Emergencies
- Studying
- Substance Abuse Disorders
- Disorders of the Adrenal Gland
- Behavior
- Documentation and Communication
- Preoperative Nursing
- Endocrine System
- Legal and Ethical Issues
- Basics of NCLEX
- Communication
- Understanding Society
- Immunological Disorders
- Cognitive Disorders
- Musculoskeletal Trauma
- Intraoperative Nursing
- Eating Disorders
- Prenatal Concepts
- Anxiety Disorders
- Depressive Disorders
- Oncology Disorders
- Personality Disorders
- Psychotic Disorders
- Trauma-Stress Disorders
- Gastrointestinal Disorders
- Circulatory System
- Integumentary Disorders
- Neurologic and Cognitive Disorders
- Nervous System
- Microbiology
- Hematologic Disorders
- Emergency Care of the Trauma Patient
- Newborn Care
- Digestive System
- Urinary Disorders
- Postpartum Care
- Infectious Respiratory Disorder
- Integumentary Disorders
- Terminology
- Concepts of Population Health
- Musculoskeletal Disorders
- EENT Disorders
- Postpartum Complications
- Postoperative Nursing
- Neurological Emergencies
- Vascular Disorders
- Disorders of Thermoregulation
- Statistics
- Neurological Trauma
- Cardiovascular Disorders
- Basic
- Concepts of Mental Health
- Health & Stress
- Endocrine and Metabolic Disorders
- Delegation
- Perioperative Nursing Roles
- Developmental Considerations
- Childhood Growth and Development
- Prenatal and Neonatal Growth and Development
- Renal Disorders
- Concepts of Pharmacology
- Integumentary Important Points
- Fetal Development
- Renal and Urinary Disorders
- Community Health Overview
- Developmental Theories
- Labor and Delivery
- Infectious Disease Disorders
- Musculoskeletal Disorders
- Basics of Human Biology
- Psychological Emergencies
- Adulthood Growth and Development
- Growth & Development
- Female Reproductive Disorders
- Sexually Transmitted Infections
- Proteins
- Hematologic Disorders
- Tissues and Glands
- Somatoform Disorders
- Oncologic Disorders
- Skeletal System
- Basics of Sociology
- Bipolar Disorders
- Emotions and Motivation
- Peripheral Nervous System Disorders
- Central Nervous System Disorders – Spinal Cord
- Neonatal
- Male Reproductive Disorders
- Prioritization
- Pediatric
- Psychological Disorders
- State of Consciousness
- Sensory System