VLCAD Deficiency
Description
VLCAD Deficiency, or Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, is a rare genetic disorder that impacts the body‘s ability to break down fats for energy. This condition can lead to a range of symptoms, from mild to severe, depending on the specific mutation and individual factors. Understanding VLCAD Deficiency is crucial for proper diagnosis and management, ultimately empowering individuals to lead fulfilling lives.
Genes Involved
VLCAD Deficiency is caused by mutations in the ACADVL gene. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase (VLCAD). This enzyme is crucial for breaking down long-chain fatty acids, which are a major source of energy for the body. Mutations in the ACADVL gene can lead to a deficiency in VLCAD, impairing the breakdown of fats and resulting in the accumulation of harmful fatty acids.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of VLCAD Deficiency can be challenging as they vary widely. Common symptoms include:
- Hypoglycemia: Low blood sugar, especially after fasting or during illness
- Hypoketotic Hypoglycemia: Low blood sugar with a lack of ketones in the blood
- Hepatomegaly: Enlarged liver
- Cardiomyopathy: Heart muscle weakness
- Muscle Weakness and Fatigue: Difficulty with physical activity
- Sudden Death: In severe cases, sudden cardiac death can occur
- Developmental Delays: In some cases, developmental delays may be present
While these are common signs, the severity and manifestation of symptoms can vary significantly.
Causes
VLCAD Deficiency is caused by an inherited genetic mutation. Individuals inherit two copies of the ACADVL gene, one from each parent. If an individual inherits two copies of the mutated gene, they will develop VLCAD Deficiency. The mutation can be passed down from parents who may or may not have the condition themselves.
Inheritance/recurrence risk
VLCAD Deficiency is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance of having a child with VLCAD Deficiency, a 50% chance of having a carrier child, and a 25% chance of having a child without the gene mutation.
