PHENYLKETONURIA
DEFINITION
Inherited disorder of inability to metabolize phenylalanine,
Leading to brain and nerve damage.
PATHOPHYSIOLOGY
Inherited disorder of phenylalanine metabolism,
caused by the deficiency of phenylalanine hydroxylase.
Results in accumulation of phenylalanine and metabolism in tissues
and body fluids PKU.
CLINICAL MANIFESTATIONS
Eczema
Seizures
Skin or hair discoloration
Musty odour to one's breath ,skin or urine.
Developmental delays
Microcephaly
MEDICAL MANAGEMENT
Vitamins and minerals supplements
Supplemental medication called sapropterin
Eating diet low in phenylalanine
Amino acid supplements
DIAGNOSTIC TESTS
Genetic tests
Blood tests
Urine tests
Plasma phenylalanine
Magnetic Resonance imaging
DIET
Low-protein diet
NURSING CARE PLAN
NURSING DIAGNOSIS
Imbalanced nutrition due to restrictive diet
Risk of injury due to convulsions
Altered thought process :
EXPECTED OUTCOMES
Nutritional needs will be provided to the patients
Patient will be free from injury
Thought process will be improved
EVALUATION
Nutritional needs of the patient are reached
Patient is free from injury
Thought process is improved
NURSING INTERVENTIONS
Assess nutritional risk , using risk tool.
Assess nutritional status
Assess for ability to move and identify risk of falling
Put patient near nursing station
Ensure safety measures such as side rails
HEALTH EDUCATION
Provide emotional support to family to reduce stress and anxiety
Inform family about food that should be avoided
Education the family and patient about disease and process that could help.
In case of convulsions,educate the family about safety