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