ESPE Abstracts

Introduction: Homocystinuria due to cystathionine-beta-synthase (CBS) deficiency is a rare abnormality of methionine catabolism. The diagnosis is suspected on the increase in plasma total homocysteine (Hcyt) and plasma methionine (Met). The diagnosis is confirmed by looking for bi allelic mutations in the CBS gene.Observation: A 14-year-old boy from a consanguineous marriage with no history. 48 hours before his admission...