Metabolism

MCAD Deficiency

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MCAD Deficiency, Medium-Chain-Acyl-CoA-Dehydrogenase Deficiency, MCADD

  • See Also
  1. Inborn Errors of Metabolism
  • Epidemiology
  1. Incidence: 1:15,000 to 17,000 live births
  2. Autosomal Recessive inheritance
  3. Most common in northwestern european descendents
    1. Due to Homozygous A985G missense mutation (see below)
  • Pathophysiology
  1. Defect in Fatty Acid oxidation
  2. A985G Missense mutation is most common cause
  • Signs
  1. Progressive nonketotic Hypoglycemia
  2. Lethargy to coma
  3. Vomiting
  4. Seizures
  5. Encephalopathy
  6. Hepatomegaly
  • Screening
  1. Newborn Screening
    1. Routine Newborn Screening performed at birth usually detects MCADD
  • Labs
  1. Hypoglcemia
  2. Urine organic acids
  3. Metabolic Acidosis
  4. Hyperammonemia
  5. Acylcarnitine
  6. Genetic Testing
  • Management
  1. Correct Hypoglycemia!
  2. Avoid Fasting state
  3. Frequent meals (low fat, high Carbohydrate) to avoid Hypoglycemia
  4. Avoid medium chain Fatty Acids (e.g. coconut oil)
  5. Careful management when ill, Vomiting
  6. Medic alert tag to notify responders in emergency
  • Complications
  1. Sudden Infant Death Syndrome
  2. Developmental Delay
  3. Motor Delay
  4. Risk of intellectual Developmental Disability
  • References
  1. Weismiller (2017) Am Fam Physician 95(11): 703-9 [PubMed]