Cholestatic Jaundice in Sulphite Oxidase Deficiency – An Unusual Association
| Autor: | Sivaramakrishnan Venkatesh Karthik, Denise Li-Meng Goh, Marion M. Aw, Alan Sze Kiat Ong |
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| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
business.industry Sulphite oxidase deficiency Metabolic disorder medicine.disease Gastroenterology Hepatic function Liver disease Cholestatic hepatitis Inborn error of metabolism Internal medicine Pediatrics Perinatology and Child Health medicine Cholestatic Jaundice business |
| Zdroj: | The Indian Journal of Pediatrics. 88:64-66 |
| ISSN: | 0973-7693 0019-5456 |
| DOI: | 10.1007/s12098-020-03428-3 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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