Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

Ruben E. Quiros-Tejeira, Jorge Vargas, Marvin E. Ament

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

We report a case of Alstrom syndrome with evidence of extensive hepatic disease diagnosed at five years of age, who subsequently developed acute liver failure and died at eight years of age. Such a case, with the patient dying before the age of ten, has not been described before. The biochemical findings during our patient's liver failure raised the question of a possible mitochondrial function defect in this syndrome. Further investigation of this possibility is needed.

Original languageEnglish (US)
Pages (from-to)9-11
Number of pages3
JournalAmerican journal of medical genetics
Volume101
Issue number1
DOIs
StatePublished - Jun 1 2001

Keywords

  • Coagulopathy
  • Encephalopathy
  • Hyperammonemia
  • Mitochondrial disorder

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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