What Is The Best Medicine For MCAD Deficiency?

MCAD deficiency requires preventive approach rather than the therapeutic approach. Various methods are provided to prevent the occurrence of the disease. If the symptoms develops and are serious in nature, intravenous administration of glucose is recommended.

What Is The Best Medicine For MCAD Deficiency?

What Is The Best Medicine For MCAD Deficiency?

There is no best medicine for MCAD deficiency; rather the condition is best managed by adopting an integrated approach involving various methods to prevent the occurrence of symptoms. The methods include carnitine and vitamin supplementation, frequent eating, not skipping meals and avoiding fasting. Glucose is administered through intravenous route in severe cases.

In the management of MCAD deficiency, the preventive measures are more effective than the curative measures. The approach is to reduce the occurrence of symptoms rather than treating them as it is unknown what harm the condition may does with the body. The risk of long term disability and death increases due to the episodes of MCAD deficiency effects. Thus, the best approach should be an integrated approach which includes various methods to avoid occurrence and also includes the immediate response to symptoms. Avoiding fasting, avoiding skipping meals, low fat high carbohydrate diet, carnitine and vitamin supplementation and frequent eating are the preventive measures. In cases of serious symptoms of MCAD deficiency, intravenous supply of glucose should be done as a part of treatment measure.

Inheritance

MCAD deficiency is an inherited condition i.e. the condition may pass on to the next generation. It is inherited in autosomal recessive manner means that both the copies of the affected genes should be present to develop the condition. If only a single copy is present, the person becomes a carrier. The condition is due to the mutation in ACADM gene.

MCAD Deficiency Treatment

In case of MCAD deficiency, prevention is better than cure. The person with MCAD deficiency leads a normal life unless the symptoms are experienced. The symptoms occur due to some trigger. Thus, the occurrence of these triggers should be avoided. It should be noted that if the symptoms of the MCAD deficiency such as hypo-ketosis and hypoglycemia continue for a longer period, it may seriously impact the health of the various organ systems such as nervous system, muscular system, cardiac system, respiratory system and liver. Following are the treatment option available for the management of MCAD deficiency:

  1. Avoid Fasting Or Skipping Meals: The symptoms of the MCAD deficiency are triggered by the lack of energy in the body. The body is solely upon the glucose as source of energy and thus fating should be avoided. Further the meals should not be skipped so as to maintain an optimum level of glucose.
  2. Frequent Eating: As the body requires continuous supply of energy even at rest thus the habit of frequently eating should be incorporated in the lifestyle. It is advised that the patient should eat every four hours.
  3. Low-Fat High-Carbohydrate Diet: Due to the deficiency of a particular enzyme, the body is not able metabolize medium chain fatty acid also, the body solely dependent upon carbohydrate as the only source of energy. Thus, the low fat high carbohydrate diet regimen should be followed.
  4. Carnitine Supplementation: Carnitine is regarded as supplement of choice in case of MCAD deficiency situation due to its inherent ability to produce energy. It assists the mitochondria in the formation of energy. Further, carnitine also removes the accumulated wastes from the body and helps restore the health of the cells.
  5. Vitamin Supplementation: Vitamin plays a major role in the reactions that results in the production of energy. The vitamins took part in these reactions as cofactor for various enzymes.
  6. Managing Illness: Illness is one of the most critical energy demanding situations. As soon as the illness is detected, the patient should immediately be taken to the hospital for further care. Body may unable to cope with this situation and risk of lifelong disability or death increases.
  7. Avoiding Energy Demanding Situations: As the body is low on energy, thus the conditions which demands high energy should be avoided such as running, mountaineering or playing games that require high energy burning.
  8. Intravenous Glucose: If the condition becomes severe, then the intravenous administration of glucose is recommended to provide instant energy to the body.

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