Final answer:
Triple A syndrome is a genetic disorder caused by mutations in the AAAS gene, inherited in an autosomal recessive pattern, distinct from disorders like Down syndrome which are due to chromosome count errors.
Step-by-step explanation:
Triple A syndrome, also known as Allgrove syndrome, is a genetic disorder disease that is characterized by a mutation in a specific gene. Unlike disorders caused by an incorrect number of chromosomes, such as Down syndrome which results from trisomy 21, Triple A syndrome is linked to mutations in a single gene.
The gene associated with Triple A syndrome is known as the AAAS gene, which provides instructions for making a protein that plays a key role in different parts of the cell, including the cell division process. Mutations in this gene can lead to a range of symptoms including adrenal insufficiency, achalasia, and alacrima. Since the AAAS gene mutation is inherited in an autosomal recessive pattern, an individual must receive two altered copies of the gene, one from each parent, to be affected by the syndrome.
Genetic testing can confirm a diagnosis of Triple A syndrome, which helps in managing the condition with targeted treatment aimed to alleviate the symptoms. Understanding the genetic cause is crucial for accurate diagnosis, family planning, and potential future therapies.