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Cholestatic Jaundice in Sulphite Oxidase Deficiency - An Unusual Association
Alan Sze Kiat Ong1, Marion Margaret Aw1,2, Denise Li-Meng Goh1,2
1Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore, Singapore.
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.
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