Tag: Ctd

Creatine, a crucial molecule for energy metabolism, is transported into cells by a specific protein. This protein, known as the creatine transport protein (SLC6A8), plays an indispensable role in supplying creatine to tissues with high energy demands, such as the brain and muscles. Its function is so vital that genetic mutations affecting it can lead to severe neurological and developmental disorders.

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.

According to the NIH, vitamin D deficiency is common in patients with connective tissue diseases (CTDs), highlighting the importance of certain nutrients. A targeted nutritional approach, focusing on specific vitamins, can play a supportive role in managing symptoms and overall health for those with connective tissue disease.