exhaustionA

ExhaustionA is a rare genetic disorder characterized by the inability to produce the enzyme alpha-galactosidase A, which is responsible for breaking down certain complex sugars. This deficiency leads to the accumulation of these sugars in the body, particularly in the brain and spinal cord. The primary symptom of ExhaustionA is a progressive neurological disorder that typically begins in infancy or early childhood, with symptoms including developmental delay, seizures, and progressive neurological decline. The condition is caused by mutations in the GALC gene, which provides instructions for making alpha-galactosidase A.

ExhaustionA is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The parents of an individual with ExhaustionA are typically carriers of the condition, meaning they have one copy of the mutated gene and do not exhibit symptoms. Carriers have a 25% chance of having a child with ExhaustionA with each pregnancy.

Diagnosis of ExhaustionA is typically made through genetic testing, which can identify the specific mutations in the GALC gene. Treatment options are limited, and the prognosis for individuals with ExhaustionA is generally poor, with most individuals not surviving beyond the first decade of life. Research into potential treatments, such as enzyme replacement therapy, is ongoing, but no effective treatments have been developed to date. Support for individuals with ExhaustionA and their families is provided by various advocacy groups and research organizations.