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
Diagnosis of ExhaustionA is typically made through genetic testing, which can identify the specific mutations in