Tag: Rare genetic diseases

Asparagine synthetase deficiency, a condition that causes asparagine deficiency, is an inherited disorder marked by severe neurological problems that begin shortly after birth. While asparagine is a non-essential amino acid, meaning the body can produce it, a rare genetic mutation can disrupt this process, with profound consequences.

Asparagine synthetase deficiency (ASNSD) is a rare, severe genetic disorder that typically manifests in infancy, but progressive neurological effects can continue into adulthood. The cause of asparagine deficiency in adults is not typically nutritional, but a genetic condition impacting brain function.