Tag: Serine deficiency

Serine deficiency disorders are a group of rare neurometabolic diseases caused by defects in the biosynthesis of the amino acid L-serine. These disorders manifest with a wide range of neurological symptoms, which can vary significantly depending on the age of onset, emphasizing the critical role of L-serine in brain development and function.

Serine deficiency disorders are a group of rare neurometabolic diseases caused by defects in the biosynthesis of the amino acid L-serine. The most significant symptoms of a low serine level are neurological and can appear from infancy to adulthood, emphasizing the amino acid's critical role in brain development and function.

First identified in 1996, serine deficiency is a treatable neurometabolic disorder that arises from defects in the biosynthesis of the amino acid L-serine. {Link: Wiley Online Library https://onlinelibrary.wiley.com/doi/10.1007/s10545-013-9592-4} Understanding what are the symptoms of a serine deficiency is critical for prompt diagnosis, as early intervention can mitigate severe neurological damage and improve patient outcomes.