Category: Amino acid metabolism

Serine deficiency syndromes are a group of rare, inborn errors of metabolism that primarily affect the central nervous system and are caused by defects in the body's ability to synthesize L-serine. The resulting lack of this crucial amino acid can manifest in a wide spectrum of neurological symptoms, which vary in severity depending on the specific genetic defect and the age of onset. Understanding the specific causes is vital for proper diagnosis and effective treatment.

During a 3-day fast, glutamine levels in muscle tissue can decrease by over 30%, yet this does not mean fasting inhibits glutamine production overall. Instead, the body's metabolic pathways undergo a sophisticated re-calibration, shifting glutamine synthesis and release to support vital functions and provide energy.

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.