Author(s): Nandha Kumar S, Bahubali Gane , Ramachandra Rao K, Vishnu Bhat B
Down syndrome (DS) individuals present abnormalities in folate-homocysteine metabolism that is attributed to the additional copy of the Cystathionine β-synthase (CβS) gene located on chromosome 21. Therefore, the aim of the study was to estimate the plasma levels of folate and homocysteine (Hcy) and compare it with age and sex matched healthy controls. The results showed a significant decrease in Hcy levels in DS. Moreover, cases affected with congenital heart defects presented statistically significant increase in Hcy levels but the same was not observed with folate. Decreased levels of folic acid and homocysteine were observed in cases with neural tube defects but found insignificant. Decreased Hcy concentration leads to functional folate deficiency contributing to the metabolic pathology in DS. The study recommends folinic acid supplementation for DS individuals.