Which are the symptoms of Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)?

Symptoms of Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) is a rare genetic disorder that affects the body's ability to break down certain fats for energy. This condition is caused by mutations in the ACADVL gene, which is responsible for producing an enzyme called very long chain acyl CoA dehydrogenase.

Individuals with LCAD deficiency typically experience symptoms during infancy or early childhood. The severity of symptoms can vary widely among affected individuals, ranging from mild to life-threatening. Some common symptoms and features of LCAD deficiency include:

Hypoglycemia:

One of the hallmark symptoms of LCAD deficiency is low blood sugar levels, known as hypoglycemia. This occurs because the body is unable to efficiently convert fats into energy, leading to a reliance on glucose as the primary energy source. Hypoglycemia can cause symptoms such as fatigue, irritability, dizziness, and difficulty concentrating.

Muscle Weakness and Fatigue:

Individuals with LCAD deficiency may experience muscle weakness and fatigue due to the inability to properly metabolize fats for energy. This can result in reduced stamina, difficulty with physical activities, and muscle pain.

Hepatic Dysfunction:

Liver dysfunction is another common feature of LCAD deficiency. The liver plays a crucial role in breaking down fats, and when this process is impaired, it can lead to liver damage and dysfunction. Symptoms may include hepatomegaly (enlarged liver), jaundice (yellowing of the skin and eyes), and elevated liver enzymes.

Cardiac Involvement:

LCAD deficiency can also affect the heart, leading to various cardiac abnormalities. These may include cardiomyopathy (weakening of the heart muscle), arrhythmias (irregular heart rhythms), and even life-threatening cardiac events such as cardiac arrest.

Metabolic Acidosis:

Metabolic acidosis is a condition characterized by an imbalance in the body's acid-base balance. In LCAD deficiency, the accumulation of certain fatty acids can lead to an excess of acidic byproducts, resulting in metabolic acidosis. Symptoms may include rapid breathing, confusion, nausea, and vomiting.

Other Symptoms:

Additional symptoms that may be present in individuals with LCAD deficiency include poor growth and weight gain, developmental delays, hypotonia (low muscle tone), and seizures. These symptoms can vary in severity and may present differently in each affected individual.

It is important to note that the symptoms and severity of LCAD deficiency can vary widely among individuals. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience severe complications and require ongoing medical management.

If LCAD deficiency is suspected, it is crucial to seek medical attention for a proper diagnosis and management plan. Genetic testing and specialized metabolic evaluations can help confirm the diagnosis and guide treatment strategies.