Tag: Asparagine synthetase deficiency

Aspartic acid is a non-essential amino acid, meaning the body typically synthesizes it in sufficient quantities. However, genetic metabolic disorders can disrupt its function or a related pathway, leading to severe health complications. This article explores the specific diseases and conditions caused by a functional deficiency in aspartic acid or its metabolic processes.

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.