Question

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD)

You’re working in a pediatrics office and a fax comes in that says Baby Smith, a 4-day-old male, has a newborn screen indicating increased risk for medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD

After familiarizing yourself with MCADD, concisely answer the following questions:

1. What gene is mutated in MCADD and where in the genome is the gene located? (2 pts)
2. Identify the enzyme altered by this mutation and discuss the consequences that result from the impairment of this enzyme. (4 pts)
3. What is the pattern of inheritance for MCADD? (2 pts)
4. How urgent is it to contact this family? Explain (3 pts)
5. Describe the therapeutic approach to this disease. (4 pts)

Answer 1

-MCADD is caused by a fault in the gene that provides the instructions to make an enzyme called medium-chain acyl-CoA dehydrogenase (MCAD). This genetic fault causes the enzyme to either not work properly or be missing entirely, which means the body cannot fully break down fat to release energy.

ACADM is a gene that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down a certain group of fats called medium-chain fatty acids. These fatty acids are found in foods such as milk and certain oils, and they are also stored in the body's fat tissue.

-Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. Mutations in the ACADM gene cause MCAD deficiency.

Symptoms-

• Vomiting.
• Low energy (lethargy) or being overly sleepy (somnolent)
• Weakness or low muscle tone (hypotonia)
• Low blood sugar (hypoglycemia)
• Trouble breathing or fast breathing (tachypnea)
• Liver abnormalities (enlargement
• high liver enzymes)
• Seizures.

MCAD deficiency is a treatable disorder that affects the way the body breaks down fats. If left untreated, MCAD deficiency can cause life-threatening illness.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder that prevents your body from breaking down certain fats and converting them into energy. As a result, the level of sugar in your blood can drop dangerously low (hypoglycemia).

The main goal of treatment for MCAD deficiency is to prevent problems caused by hypoglycemia from occurring. Infants with MCAD deficiency require frequent feedings with adequate calories from complex carbohydrates to maintain blood sugar and avoid hypoglycemia.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder that prevents your body from breaking down certain fats and converting them into energy. As a result, the level of sugar in your blood can drop dangerously low (hypoglycemia).