[PYQA] Phenyl ketonuria

1. Disclaimer
2. Introduction
3. Signs and Symptoms
4. Diagnostic Evaluation
5. Medical Management
6. Nursing Management
7. Health Education
8. Conclusion

Disclaimer:-

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Introduction:-

Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.


Signs and Symptoms:-
The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment with a low-phenylalanine diet. Babies born to mothers who have PKU and uncontrolled phenylalanine levels have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children Other characteristic medical problems include heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU and uncontrolled phenylalanine levels also have an increased risk of pregnancy loss.


Diagnostic Evaluation:
• Plasma amino acid analysis which shows increased phenylalanine without increased tyrosine (increased phenylalanine:tyrosine ratio).
  
  
• Urine pterin analysis and red blood cell
  
  
• DHPR (dihydropyridine receptor )assay will identify pterin defects.
  
  
• DPAH (phenylalanine hydroxylase)mutation testing.



Medical Management
The treatment of PKU is lifelong with a goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.

Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.

AH genotyping (i.e. mutation analysis) is recommended for improved therapy planning.

Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.

Any combination of therapies (medical foods, Kuvan, etc) that improve a patient's blood PHE levels is appropriate and should be individualized.

Reduction of blood PHE, increase in PHE tolerance or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.

Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.

Due to an increased risk for neurocognitive and psychological issues, regular mental health monitoring is warranted.  A number of screening tests are recommended to identify those in need of further assessment.

Blood PHE should be monitored at a consistent time during the day, preferably 2-3 hours after eating.



Nursing Management
Nursing Management vary from Antenatal Care



Health Education:
It is important for teachers at school to understand the basics of PKU, why PKU child needs a special diet, and why careful supervision is needed. Anyone who comes in contact with  the child will need a basic understanding of the dietary restrictions. br/>
Some key points that you may want to include:
• PKU is a genetic condition that is not contagious.
• Apart from needing a special diet, a person with PKU is healthy.
• People with PKU cannot break down an amino acid called phenylalanine (Phe), which is found in all foods containing protein.
• Phe can build up in the blood and damage the developing brain.
• Staying on a low protein diet keeps Phe levels in a safe range, allowing for normal development and a healthy life.
• Eating the wrong foods will not make a person with PKU sick right away, but will cause problems over the long-term. Having food that is not part of the diet should not be considered a “treat” as it will have implications for an individual with PKU.
• A person with PKU does not outgrow it and must stay on the diet for life.
  
  Changes in school or classroom practice or policy may also need to be made to help your child adhere to their diet, such as:
  
  
• Creating a “no-swapping” rule to prevent children from trading or sharing food.
• Asking teachers to pack any leftover food in your child’s lunchbox so you can deter mine how much was eaten.
• Keeping low protein snacks at school when snacks or treats are necessary.
• Allowing child to drink formula at school or in the classroom.



Conclusion
  Even though the the least population is affected with PKU disease it is vital to know the disease condition and physiology.