Metabolic disorders

Metabolic disorders should be suspected whenever a child shows unexplained regression (loss of milestones), lethargy, and mental status change without infection, multiorgan involvement during an illness that is not typical for the illness, or a pattern of greater than expected levels of illness in the setting of known mild infections.

Metabolic testing

Most metabolic disorders are rare, and it would not be cost effective or sensible to screen all children with cognitive disabilities for all metabolic disorders. Certain symptoms and physical features should trigger concern, however, for the possibility of a metabolic disorder and prompt additional workup.

Clinical findings that should increase suspicion for a metabolic disorder include the following,

  • Unusual features and organomegaly, which raise concern for a possible storage disorder.
  • A loss of milestones, or a neurodegenerative course.
  • Severe hypotonia.
  • Unusual movements such as choreoathetosis
  • Autonomic instability, visual abnormalities, stroke in infancy, which all raise concern for a possible mitochondrial disorder
  • Neurological examination and developmental history that are inconsistent with the patient’s medical history.(i.e., no history of birth trauma or head trauma or severe infection)


Types of metabolic disorders

  • Neuro metabolic disorder
  • Paediatric emergencies metabolic disorders (Reye’s syndrome)
  • Inherited metabolic disorders
  • Ataxic disorders
  • Stroke and intra cranial haemorrhage

Treatment for metabolic disorders

Limited treatments are available for inherited metabolic disorders. The essential genetic defect causing the condition can’t be corrected with current technology. Instead treatments try to work around the problems with metabolism.

Treatments for genetic metabolic disorders follow a few general principles:

  • Reduce or eliminate intake of any food or drug that can’t be metabolized properly.
  • Replace the enzyme or other chemical that is missing or inactive, to restore metabolism to as close to normal as possible.
  • Remove toxic products of metabolism that accumulate due to the metabolic disorder.

Treatment may include such measure as:

  • Special diets that eliminate certain nutrients.
  • Taking enzymes replacements, or other supplements that support metabolism
  • Treating the blood with chemicals to detoxify dangerous metabolic by –products
  • Children and adult with inherited metabolic disorders can become quite ill, requiring hospitalization and sometimes life support. Treatment during these episodes focuses on emergency care and improving organ function.

Role of occupational therapy:

  • Parental education
  • Energy conservation technique
  • Strength and endurance
  • Achieving balance
  • Cognition skills
  • Fine motor skills training
  • Visual motor skills training
  • Sensory integration
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