Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy.

Classical homocystinuria is a hereditary defect of the enzyme cystathionine beta synthase, which is produced in the liver. If this enzyme fails, the synthesis pathway of cysteine from methionine is interrupted, leading to the accumulation of homocysteine in the blood plasma and homocysteine in the urine. After birth, the children are unremarkable except for the characteristic laboratory findings.

Benzocaine-induced methaemoglobinaemia: a case study.

Benzocaine is a widely used topical anaesthetic and has been reported to cause toxic methaemoglobinaemia in otherwise healthy individuals with no predisposing risk factors. This article reports on a rare case of benzocaine-induced methaemoglobinaemia following adenotonsillectomy in a 5-year-old girl. Topical benzocaine was applied orally for the relief of postoperative wound pain on the eighth postoperative day.