Cholestatic Jaundice in Sulphite Oxidase Deficiency - An Unusual Association
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.
| Errataetall: |
CommentIn: Indian J Pediatr. 2021 Jun;88(6):628-629. - PMID 33205359 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:88 |
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| Enthalten in: |
Indian journal of pediatrics - 88(2021), 1 vom: 09. Jan., Seite 64-66 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ong, Alan Sze Kiat [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Completed 25.05.2021 Date Revised 31.05.2022 published: Print-Electronic CommentIn: Indian J Pediatr. 2021 Jun;88(6):628-629. - PMID 33205359 Citation Status MEDLINE |
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| doi: |
10.1007/s12098-020-03428-3 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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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| 650 | 4 | |a Sulphite oxidase deficiency | |
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| 700 | 1 | |a Goh, Denise Li-Meng |e verfasserin |4 aut | |
| 700 | 1 | |a Karthik, Sivaramakrishnan Venkatesh |e verfasserin |4 aut | |
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