MCAD deficiency, also known as medium chain acyl CoA dehydrogenase deficiency, is a genetically inherited disorder. It is an autosomal recessive genetic disorder, which is caused by a genetic mutation in the MCAD deficiency gene. The person suffering from MCAD deficiency usually becomes symptomatic following an extended period of fasting or during an illness, or severe vomiting. The characteristic symptom of this condition is a dangerous hypoglycemia and even sudden death or coma.
Prognosis For MCAD Deficiency
Diagnosing the MCAD deficiency early is of utmost importance. Once the diagnosis is confirmed, the prognosis is good. People can lead a normal or near-normal life after being diagnosed with MCAD deficiency, by taking certain precautionary measures. The primary factor to be considered is to avoid any long periods of fasting and should take proper precautions during an illness, when energy requirements are very high.
In order to understand the prognosis/outlook for MCAD deficiency better and in detail, let us first have a quick look at what the treatment and management focuses on and what is the mechanism of action of this disorder-
MS screening provides a better prognosis on identification of infants who might be suffering from MCAD deficiency.
Prior to the advent of this screening, most people were diagnosed on the basis of symptoms, when they presented in an emergency room
Due to this, the major part of the treatment and management comprised of addressing the major consequences and symptoms of the condition that the affected person presented with.
However, due to the MS screening, most part of the treatment now comprises of methods and strategies that prevent the condition from occurring and that prevent the state of metabolic decompensation.
Mechanism of action of MCAD deficiency –
- The preferred source of energy in our cells is glucose
- When your body faces a short-term fasting, the glucose that is derived from the stored glycogen is used as a source of energy
- When glucose sources start to get depleted, it is then that the stored fats are used for energy
- The fats that are stored are oxidized by certain enzymes that are particularly chain-length specific
- Long chain fatty acids are broken down and as a result the chain length reduces to 8-10
- This is when the enzymes specific to the medium chain length are used to oxidize the fatty acids
In absence or deficiency of these enzymes, naturally the fat cannot be used as a source of energy and the body starts going into a state of dangerous hypoglycemia; particularly so if there has been a long period of fasting or high energy requirements like during an illness
- The ketones that are usually see during the time of fasting, also get produced in a limited quantity
- If you suffer from MCAD deficiency, it is good to watch your dietary intake too.
- Infants suffering from MCAD deficiency should not be kept on a night time fasting gap of more than 4 hours in the initial four months of their lives
- Afterwards, an extra hour can be added for each month for up to 12 months
- Other than this, the feeding schedule for both formula-fed and breast-fed infants can be the same as any other infants
- The diet of children and adults affected from MCAD deficiency should comprise of fresh fruits and vegetables on a regular basis
- The diet should include 30% of the calorie source as fats and complex carbs should be included
- Overeating and consuming extra calories must be avoided
- Maintaining a proper weight is essential as obesity can lead to further development of serious symptoms
MCAD deficiency is a genetically inherited autosomal recessive disorder. It occurs due to a mutation in the MCAD gene. It is triggered particularly by long duration of fasting in an MCAD deficiency affected individual, or during a severe illness or episodes of vomiting, due to metabolic decompensation. If not attended to promptly and efficiently it can lead to a dangerous hypoglycemia and a sudden death.
Also Read:
