Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

A Guide to Understanding and Managing This Inherited Metabolic Condition

Pediatrics

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Last updated: Mar 24, 2025

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is an inherited metabolic disorder that affects how the body breaks down fats for energy.

What Causes MCADD?

MCADD occurs due to mutations in the ACADM gene, which provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase. This enzyme is essential for:

  • Breaking down medium-chain fatty acids
  • Converting fat into energy
  • Supporting normal metabolism

Key Symptoms

Symptoms typically appear when the body needs to break down fat for energy, such as during:

  • Illness with fever
  • Prolonged fasting
  • Intense physical exercise

Common Signs Include:

  • Lethargy and sleepiness
  • Vomiting
  • Low blood sugar (hypoglycemia)
  • Seizures (in severe cases)
  • Behavioral changes

Management Strategies

Daily Care

  1. Regular feeding schedule
  2. Avoiding long periods without food
  3. High-carbohydrate, low-fat diet
  4. Regular monitoring of blood sugar levels

Emergency Situations

  • Immediate medical attention if ill
  • Emergency protocol card carrying
  • Hospital treatment plan awareness

Prevention

  • Regular meals every 3-4 hours
  • Night-time feeding may be necessary for young children
  • Emergency snacks always available
  • Medical ID bracelet wearing

Long-term Outlook

With proper management, individuals with MCADD can lead normal, healthy lives. Early diagnosis and consistent preventive measures are key to success.

When to Seek Help

Contact healthcare providers immediately if:

  • Illness develops
  • Vomiting occurs
  • Decreased appetite persists
  • Unusual tiredness appears

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