Symptoms like vomiting and trouble breathing can develop soon after birth and turn deadly if left untreated.
Today, testing for MCAD deficiency is part of standardnewborn screeningsin the United States.
What Are the Signs and Symptoms of MCAD Deficiency?
Illustration by Brianna Gilmartin, Verywell
With prolonged fasting, children with MCAD deficiency experience suddenhypoglycemia(low blood sugar) and liver dysfunction.
In newborns, symptoms may be kept at bay while on regular feeding schedules.
However, once there are longer stretches between feedings, the symptoms may become more and more apparent.
When not fasting or ill, people with MCAD deficiency usually do not have any symptoms.
What Causes MCAD Deficiency?
MCAD deficiency occurs due to the lack of the enzyme called medium-chain acyl-CoA dehydrogenase (ACADM).
The gene mutation is passed in anautosomal recessive pattern.
They, in turn, will be able to pass the gene to their child if they ever conceive.
In some cases, a person may only experience symptoms during adulthood.
Is MCAD Deficiency Common?
MCAD deficiency is rare, affecting roughly one of every 17,000 newborns.
White people of northern European ancestry are at highest risk.
Males and females are equally affected.
How Is MCAD Deficiency Diagnosed?
The U.S. Department of Health and Human Services recommends MCAD deficiency testing as part of routine newborn screening.
The primary benefit of screening is that an infant can be diagnosed before symptoms develop.
If the screening indicates MCAD deficiency, additional testing can provide more information.
The parents and siblings would also undergo genetic testing.
How Do You Treat MCAD Deficiency?
The primary way to treat MCAD deficiency is to avoid prolonged fasting and ensure proper nutrition.
Parents will be given strict instructions about feeding to prevent any long periods of fasting.
What is the life expectancy of someone with MCAD deficiency?
If MCAD deficiency is properly managed, a person can live a long and healthy life.
However, if left undiagnosed and untreated, the risk of death is estimated to be around 20%.
Most deaths occur during early childhood.
The deficiency triggers when two parents with a specific gene mutation pass it to their child.
If the condition goes undiagnosed and untreated, it can be fatal.
They also need to avoid long periods of fasting.
If properly managed, most people with MCAD deficiency can lead normal, healthy lives.
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