Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited condition that prevents your body from breaking down certain fats and turning them into energy. As a result, the level of sugar in your blood can fall dangerously (hypoglycaemia). MCAD deficiency is present from birth and is a lifelong condition.
If left untreated, hypoglycemia caused by MCAD deficiency can lead to seizures, breathing difficulties, coma, and other serious health problems.
In the United States, all states test for MCAD deficiency as part of newborn screening at birth. If MCAD deficiency is diagnosed and treated early, diet and lifestyle can treat the disorder well. MCAD deficiency Treatment in Hyderabad
The signs and symptoms of MCAD deficiency usually first appear in babies and young children. In rare cases, the disorder is not diagnosed until adulthood.
Signs and symptoms can vary in people with MCAD deficiency, but typically include:
- Lack of energy
- Low blood sugar level (hypoglycaemia)
- Hypoglycemia can be triggered by:
- Spend too much time without eating or fasting
- Not eating enough complex carbohydrates
- Viral infections and other diseases
- Recurring fever
If you don’t have enough MCAD enzyme in your body, some fats called medium chain fatty acids cannot be broken down and converted into energy. This leads to hypoglycemia and low energy. In addition, fatty acids can build up in body tissues and damage the liver and brain.
MCAD deficiency is inherited from both parents. Although both parents are carriers – each has an abnormal gene – they usually do not show any symptoms of the disease. The affected child inherits two copies of the abnormal gene – one from each parent.
If you inherit only one affected gene, you won’t develop MCAD deficiency, but you are a carrier and can pass the abnormal gene on to your children. But they wouldn’t develop the disease if they hadn’t also inherited an affected gene from their other parent. MCAD deficiency Treatment in Hyderabad