A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2017; you can also visit the original URL.
The file type is application/pdf
.
Homocystinuria due to cystathionine beta synthase deficiency
2008
Indian Journal of Dermatology, Venereology and Leprology
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and fi nger spasms. Biochemical fi ndings include increased levels of homocysteine in the blood-106.62 µmol/L (normal levels: 5.90-16µmol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the
doi:10.4103/0378-6323.42916
pmid:18797062
fatcat:3mdyjujgxbht7kstxjhkqe6fvu