Question

Complications of Infants: Providing Dietary Teaching About Phenylketonuria ( please fill every box!!! including safety considerations!!!)

ACTIVE LEARNING TEMPLATE System Disorder STUDENT NAME DISORDER/DISEASE PROCESS REVIEW MODULE CHAPTER Alterations in Health (Diagnosis) Pathophysiology Related to Client Problem Health Promotion and Disease Prevention ASSESSMENT SAFETY CONSIDERATIONS Risk Factors Expected Findings Laboratory Tests Diagnostic Procedures PATIENT-CENTERED CARE Complications Nursing Care Medications Client Education Therapeutic Procedures Interprofessional Care

Answer 1

phenylketonuria :

An inherited inability to metabolize phenylalanine which , if untreated causes brain and nerve damage.

Alterations in health :

Imbalanced nutrition less than body requriements related to restrictive diet

Impaired skin integrity related to scratching at the perineal area secondary eczema.

Risk for injury related to convulsions

Pathophysiology :

PAH deficiency leads to increase phenylalanine in the plasma and to excretion of phenylpyruvic acid and phenylacetic acid in the urine.

• PAH catalyse the conversion of L - tyrosine ,the rate limiting step in oxidative degradation of phenylalanine.
• The enzyme PAH crystallizes as a tetramer , with each monimer consisting of a catalytic domain and a tetramerization domain.
• A small percentage of children with elevated phenylalanine levels exhibit normal PAH levels but have a deficiency in synthesis or recycling of BH4
• This condition sometimes called as malignant phenylketoneuria , and can result in biallelic mutations.

Health promotion and disease prevention :

The health of the phenylketonuria is promoted by the Early diagnosis and treatment to avoid complications of phenylketoneuria.

Phenylketonuria cannot be prevented as it is a genetic disorder that is passed down from the parents to child.

But the patient is pregnant it is prevented to transmit child by following phenylalanine diet and genetic counselling.

Risk factors :

Having both parents with a defective gene

Being of certain ethnic descent .

Expected findings :

Fair hair and skin

Eczema

Intellectual disability

Musty odor of urine

Epilepsy

Hypopigmentation of eye ( blue eyes )

Small head , hyperactive

Delayed development

Emotional , behavioural social problems

Laboratory tests :

Guthrine inhibition assay test- screening of blood of small heel prick

Plasma phenylalanine

Urine tests

Diagnostic tests:

New born screening

Phenylalanine testing molecular testing and guthrine tests as a bacterial inhibition assay.

Nursing care:

Diet - Avoid solid foods for 8nfant , special formulas such as lofenalac and phenyl free formulas

Emotional support to cope with the shock , anxiety and stress

Health education - disease process , if child phenylalanine kept control the growth and development will not affected

Guidance from dietician

Safety precautions for convulsions

Medications :

Sapropterin have lowering of plasma phenylalanineleveps

Enzyme therapy- this therapy is currently under investigation for the potential treaent of patients with PKU who do not respond to BH4

Therapeutic procedures:

Phenylalanine free formulas

Restricted diet - low protein diet

Amino acid supplementation

Avoidance of aspartame

Gene therapy

Client education :

Diet management

Disease process

Treatment

Advice and support

Safety considerations diring drug usage

Frequent blood monitoring in pediatric population

Inter professional care :

All the team members in unit need to aware of the phenylketonuria

Work with the multidisciplinary team approach to prevent complications.

Clinician partners and patients should share the decision making

Therapeutic plan is achievable and realistic for patient

safety consideration :

In pregnant women ,strict intake of phenyalanine free diet and avoidance of protein diet like milk , meat , egg , cheese to ensure healthy development of her infant.

If the patient has epilepsy , should explain about first aid management .

Diet should be taken according to physician order.

complications:

Development problems

Mental retardation

Seizures and tremors

Difficulty in execitive function

Psychological and behavioural issues

Social difficulties

Eczema

Impaired growth irritability