METABOLIC DISORDER

 Inborn Errors of metabolism

 Affects amino acid & protein, carbohydrate, and lipid metabolism.
 Most disorders are autosomal recessive in transmission
 Early detection and treatment are essential to the prevention of irreversible cognitive
impairment and early death
 Commonly cause changes in growth and child’s social and physical development and
many impair cognitive development
 Often manifested in growth and development delays, especially during puberty and
adolescence
ASSESSMENT
• Take a history by asking the parents to describe all the actions in a typical day.
• Assess dietary and elimination habits. Extreme thirst may occur.
• General appearance may reveal early or late puberty changes such as scaling, drooping
eyelids, poor muscle tone etc.
NURSING DIAGNOSIS
Because endocrine glands control vital body functions, nursing diagnoses relevant to
children with metabolic disorder include both physiologic function and response to those
changes. Examples include:
• Deficient fluid volume related to constant excessive loss of fluid
• Risk for imbalanced nutrition, less than body requirements. Related to an inability to use
glucose because of diabetes mellitus.
• Disturbed body images related to abnormal height.
• Health-seeking behaviors related to the self-administration of insulin.
• Interrupted family process related to the child’s chronic illness
OUTCOME IDENTIFICATION AND PLANNING
• Because symptoms are usually not acute, children may easily forget to take necessary
medications. Helping parents create reminder charts or set alarms on their smartphones
are effective measures to increase compliance.
• Evaluate both the school and home situation for any child with a chronic illness. You
may need to help teachers better understand the child’s health problem
• Select organizations that are helpful to parents.
OUTCOME EVALUATION
• The following examples suggest desired outcomes have been achieved:
• The child brings to clinic a written desired record showing she took her medication as
recommended
• Parents list developmentally appropriate, not size appropriate, activities for their child
with a short stature
• Parents demonstrate correct insulin injection techniques and state they are comfortable
administering an injection to their child.