Tag: Gamt

Creatine deficiency syndromes (CDS) are a group of inborn errors of metabolism that can cause severe neurodevelopmental issues, with the specific prognosis differing significantly across the three known types.

Creatine is a critical energy molecule found in the tissues of all vertebrates, serving as a buffer for cellular energy. In contrast to popular belief, animals do not solely rely on diet for their creatine supply, instead producing a significant portion of it through a complex metabolic process.

Creatine deficiency syndromes are a group of rare, inherited metabolic disorders that affect creatine synthesis and transport. While many associate low creatine levels with diet or muscle mass, true genetic creatine deficiency is not a common condition. The prevalence varies by type, but all are considered rare, with some having been reported in fewer than 20 cases worldwide.