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Case Reports
. 2021 Jan;88(1):64-66.
doi: 10.1007/s12098-020-03428-3. Epub 2020 Jul 9.

Cholestatic Jaundice in Sulphite Oxidase Deficiency - An Unusual Association

Alan Sze Kiat Ong  1 , Marion Margaret Aw  1   2 , Denise Li-Meng Goh  1   2 , Sivaramakrishnan Venkatesh Karthik  3   4
Affiliations
Case Reports

Cholestatic Jaundice in Sulphite Oxidase Deficiency - An Unusual Association

Alan Sze Kiat Ong et al. Indian J Pediatr. 2021 Jan.

Abstract

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.

Keywords: Cholestatic hepatitis; Metabolic disorder; Pediatric; Sulphite oxidase deficiency.

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References

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