What Are The Symptoms Of MCAD Deficiency?

MCAD deficiency is a condition in which the body is unable to break down some of the fatty acids, especially medium chain fatty acids, into acetyl- coA. The characteristic symptom of this disorder is hypoglycemia. It may even prove to be fatal and result in a sudden death if prompt and efficient medical attention is not sought. The hypoglycemia and sudden death is usually seen after long periods of fasting or in some cases vomiting.

What Are The Symptoms Of MCAD Deficiency?

The symptoms of MCAD deficiency are:

  • MCAD deficiency is usually seen for the first time in early infancy
  • Hypoglycemia and liver dysfunction usually happen after long periods of fasting
  • These can also be caused by an infection along with vomiting
  • In the infants who are exclusively on breastfeeding may present with these symptoms within a short period after their birth if they are not feeding properly
  • In some cases, it is not seen until there is sudden death due to a minor illness
  • Many people who have MCAD deficiency may not produce any symptoms at all unless there is a triggering factor that causes an impact on their metabolism
  • They can remain asymptomatic for life if they do not face such a situation
  • As advanced newborn screening is possible these days, many women are diagnosed with MCAD deficiency after low carnitine levels are diagnosed in their newborn babies

Mechanism Of Action

  • MCAD deficiency is an autosomal recessive inherited disorder
  • It means that both the parents must give the mutated gene to their child in order for him to get affected by this condition
  • The MCAD deficiency enzyme carries out the dehydrogenation of fatty acids that have a chain length between 6 to 12 carbons
  • This oxidation of the fatty acids provides us with the energy after all the stores of glucose an d glycogen are absorbed by the body
  • This oxidation process characteristically takes place whenever you go on long periods of fasting or during an illness, meaning when the calorie intake is decreased and the demand for energy is increased
  • It can be seen that due to the deficiency of MCAD deficiency this oxidation process cannot take place and as a result hypoglycemia can happen as all stores of glucose and glycogen will be already used up
  • It scan therefore, result in a sudden death

Treatment For MCAD Deficiency

  • The primary care to be taken by the people who suffer from MCAD deficiency is that they should be avoiding extremely long or extended periods of fasting
  • This is a common care to be taken by almost all people who suffer from most other fatty acid oxidation disorders
  • If you suffer from an illness, it is necessary to take special care so that there is no stress on metabolism, so as to avoid sudden death
  • While going through an illness, taking supplements of glucose or simple carbs can prevent catabolism
  • It is evident that long or extended periods of fasting are to be avoided, however, the duration of fasting depends upon the age and is also different for different persons affected by MCAD deficiency
  • The general fasting period that is tolerated by an MCAD deficiency affected individual can significantly change during an illness and hence that should be primarily kept in mind
  • As a precaution, if you suffer from MCAD deficiency, you should always carry an emergency note in your pocket or wallet, which clearly has your disorder mentioned in it.
  • This is particularly important when traveling as in case of an emergency the doctors or medical attendants might be new and unaware of your condition. The note will help them start a proper line of treatment promptly and efficiently.

MCAD deficiency is a genetically inherited disorder. It is a disorder related to the oxidation of medium chain fatty acids. This disorder is characterized by the presence of a dangerous hypoglycemia and sudden death. Hence, proper medical attention should be sought when needed without any further delay.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 4, 2018

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