Author: Ong, Alan Sze Kiat; Aw, Marion Margaret; Goh, Denise Li-Meng; Karthik, Sivaramakrishnan Venkatesh
Title: Cholestatic Jaundice in Sulphite Oxidase Deficiency - An Unusual Association. Cord-id: 0v39flog Document date: 2020_7_9
ID: 0v39flog
Snippet: Sulphite oxidase deficiency is an extremely rare inborn error of metabolism of sulphur containing amino acids. There are no reports of liver involvement in this condition. The authors describe a 9-y-old boy with known sulphite oxidase deficiency who presented with worsening cholestatic hepatitis which may be possibly related to underlying metabolic disorder. Although there is no current evidence that treating liver disease and ensuring normal hepatic function in sulphite oxidase deficiency would
Document: Sulphite oxidase deficiency is an extremely rare inborn error of metabolism of sulphur containing amino acids. There are no reports of liver involvement in this condition. The authors describe a 9-y-old boy with known sulphite oxidase deficiency who presented with worsening cholestatic hepatitis which may be possibly related to underlying metabolic disorder. Although there is no current evidence that treating liver disease and ensuring normal hepatic function in sulphite oxidase deficiency would likely benefit patients, this could potentially contribute to optimising growth and development as well as improving the overall prognosis.
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