DISEASE SCANNER

Global Incurable Diseases Tracker

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Metabolic Disorder

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

HIGH SEVERITY

A fatty acid oxidation disorder where the body cannot break down medium-chain fatty acids for energy. Can lead to hypoglycemia, seizures, and brain damage during fasting or illness. Most common fatty acid oxidation disorder.

Global Affected

500.0K

Countries

21

Symptoms

Hypoglycemia
Vomiting
Lethargy
Seizures
Coma
Brain damage
Sudden death
Muscle weakness
Liver problems

Treatment Options

Avoid fasting
Frequent feeding (infants)
Medium-chain triglyceride oil
Carnitine supplementation
IV glucose during illness
Emergency protocol
Regular monitoring

Risk Factors

1Inherited (autosomal recessive)
2Family history
3Consanguinity
4Northern European ancestry (higher prevalence)

Diagnostic Methods

  • 1Newborn screening
  • 2Acylcarnitine profile
  • 3Urine organic acids
  • 4Genetic testing (ACADM gene)
  • 5Enzyme assay
  • 6Prenatal testing

Prognosis

Excellent with proper management. Normal life expectancy and development if fasting avoided and emergency protocols followed. Risk of death if untreated during metabolic crisis.

Prevention

  • Newborn screening
  • Genetic counseling
  • Avoid fasting
  • Emergency protocols
  • Medical alert bracelet
  • Family education

Research Status

Newborn screening standard. Avoidance of fasting crucial. Medium-chain triglyceride supplementation. Carnitine supplementation. IV glucose during illness. Excellent outcome with proper management. Emergency protocols essential.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoIndiaChinaRussiaSwedenNetherlandsNorwayFinlandDenmarkIrelandNetherlands

Sources

  • https://www.newbornscreening.info/Parents/fattyaciddisorders/MCADD.html
  • https://www.mayoclinic.org/diseases-conditions/mcadd
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases
  • https://www.newbornscreening.info

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.