1. What are the probable implications of this suspected diagnosis?
This usually presents ages 3-24 months, prolonged fasting or infections, which cause-decreased appetite, increased energy requirements, and a fever. Sudden death is usually the first implication.
2. How urgent is it to contact this family to ask them to bring the baby to a pediatric emergency center or emergency room?
Extremely Urgent, because People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.
3. Describe the genetic etiology of MCAD.
Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme,
This usually presents ages 3-24 months, prolonged fasting or infections, which cause-decreased appetite, increased energy requirements, and a fever. Sudden death is usually the first implication.
2. How urgent is it to contact this family to ask them to bring the baby to a pediatric emergency center or emergency room?
Extremely Urgent, because People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.
3. Describe the genetic etiology of MCAD.
Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme,