Is MCAD Deficiency A Serious Condition?

MCAD deficiency is a condition in which the fatty acids are not oxidized and thus are not able to take part in the energy production. Thus, the body has to remain dependent on the glucose for complete energy. Exposure to energy demanding conditions adversely affect the vital processes in MCAD deficient patients.

Is MCAD Deficiency A Serious Condition?

MCAD deficiency is a serious condition and if the disease is not diagnosed, it may lead to death. MCAD deficiency may also have serious complication on various vital systems of the body. Following are the complications due to MCAD deficiency:

Nervous Complications: Nervous system requires continuous supply of energy in order to perform vital function even when the body is sleeping. Energy is must in conducting electrical signals to the vital organs and any disturbance in the electrical signal may cause seizures. Further, in more severe circumstances the patient may slip in coma. The other complications include severe dizziness and vomiting.

Respiratory Distress: The respiratory system also requires energy to perform the process of breathing. In the energy-crunching situations, the MCAD-deficient individuals may experience respiratory distress and respiratory depression.

Cardiac Arrest: The cardiac muscles require energy to function and decrease in energy reduces the power of cardiac muscles to contract. If the MCAD deficiency is not adequately managed, it may lead to cardiac arrest and sudden death.

Hepatic Abnormality: The deficiency of the MCAD results in the halting of gluconeogenesis. Gluconeogenesis is the process of creating energy from the non-carbohydrate substances. The fatty acids are not oxidized in the liver leading to accumulation of fatty acid intermediates. This leads to liver toxicity and hepatomegaly.

Muscular Weakness: Almost 18-20% of the patient with MCAD deficiency suffers from the muscular weakness. Muscles require continuous energy and especially smooth muscles and cardiac muscles are important for performing vital functions. Lack of energy in muscles results in muscle fatigue.

Seriousness Of MCAD Deficiency

In MCAD deficiency, the ability of the body to produce energy from the non-carbohydrate substances is significantly reduced. Due to the highly sophisticated diagnostic techniques and the process of screening the individuals, who are at risk, at an early stage, MCAD deficiency has a favorable prognosis. MCAD deficiency deprives the body with energy at such a significant level that the basic and vital processes of the body come to a halt. These processes, which are important for the existence of life, are stopped abruptly leading to sudden death. The condition is so severe that a minor illness may lead to sudden cardiac arrest or respiratory distress.

MCAD deficiency condition is more pronounced in people who are fastening or vomiting or suffering from illness such as bacterial or viral infections. These are the conditions which require excessive energy. The conditions become more serious when the organs that require continuous energy are under limited supply. These organs involve nervous system and muscular system especially smooth muscles and cardiac muscles. Prolonged unmanaged MCAD deficiency leads to serious complications related to nervous system such as severe dizziness, vomiting, seizures and the patient may go into coma. Further, as the liver cells are not able to convert the fatty acid, the fatty acids accumulate in the hepatic cells leading to hepatic toxicity and hepatomegaly. Thus, MCAD deficiency is a serious condition which adversely affects the vital organs and thus should be carefully managed.

Prognosis

MCAD deficiency is the condition which has a different genotype and phenotype characteristics. This means that the symptoms of the disease are not only depend upon the genotype rather they also vary according to the environmental conditions. Thus, through proper care and treatment, a person may live a healthy life. For a favorable prognosis, the disease should be identified at an early stage and the person should be refrained from doing the activities that require high energy and stamina. In conditions of metabolic decompensation due to MCAD deficiency, the patient may have significant impact on the brain and can develop attention deficit disorder, seizures and coma.

The condition is severe in case the diagnosis is not established as the death is common in cases of metabolic disorder and minor illness.

Conclusion

MCAD deficiency a serious disease and the deaths due to unmanaged condition are common. Various complication also occurs due to this disease, some of which remains throughout life. Complications include cardiac arrest, respiratory failure, hepatic toxicity and death.

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