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For healthcare providers: Additional clinical information

VLCAD is one of several Fatty Acid Oxidation Disorders (FAOD) in which there is an inability to break down certain fats, caused by an enzyme deficiency. This results in a decreased ability to go for a long time without food or calories (fasting). 

About one in every 30,000 babies is born with VLCAD. 

Before VLCAD was included on the newborn screening test, three types of VLCAD were recognized by the severity of the condition: 

  • A severe early onset form that typically presented in the first months of life and included cardiac disease (cardiomyopathy) and multi-organ failure.
  • An early childhood onset form with an enlarged liver that did not include an enlarged heart (cardiomyopathy), and presented with low blood sugar (hypoglycemia).
  • A milder, later childhood or adult onset form that affects muscles.  It presents with intermittent breakdown of muscle tissue (rhabdomyolysis), muscle cramps and/or pain, and/or exercise intolerance.

Now that VLCAD can be detected through newborn screening, the determination of the type of VLCAD is determined through genetic and biochemical testing.  With treatment from infancy, children with all types of VLCAD are expected to live a full life. However, they are still at risk for complications in times of illness, stress, and prolonged or extreme physical activity.

Children with VLCAD do not have any distinct physical features.

Note: There is wide variability within individuals who have this condition.  

This information was last updated in May 2020.