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Cholestatic Jaundice in Sulphite Oxidase Deficiency – An Unusual Association

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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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References

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Acknowledgments

The authors thank Dr. Dimple Rajgor for her assistance in formatting, reviewing, and in submitting the manuscript for publication.

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Authors and Affiliations

  1. Khoo Teck Puat - National University Children’s Medical Institute, National University Health System, Singapore, Singapore

    Alan Sze Kiat Ong, Marion Margaret Aw, Denise Li-Meng Goh & Sivaramakrishnan Venkatesh Karthik

  2. Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

    Marion Margaret Aw, Denise Li-Meng Goh & Sivaramakrishnan Venkatesh Karthik

Authors
  1. Alan Sze Kiat Ong
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  2. Marion Margaret Aw
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  3. Denise Li-Meng Goh
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  4. Sivaramakrishnan Venkatesh Karthik
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Contributions

ASKO: Collected the data, carried out the initial analyses, drafted and revised the manuscript. MMA and DL-MG: Conceptualized and designed the study and critically reviewed the manuscript for important intellectual content; SVK: Conceptualized and designed the study, interpreted the data and critically reviewed the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work. SVK is the guarantor for this paper.

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Correspondence to Sivaramakrishnan Venkatesh Karthik.

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Ong, A.S.K., Aw, M.M., Goh, D.LM. et al. Cholestatic Jaundice in Sulphite Oxidase Deficiency – An Unusual Association. Indian J Pediatr 88, 64–66 (2021). https://doi.org/10.1007/s12098-020-03428-3

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  • DOI: https://doi.org/10.1007/s12098-020-03428-3

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