Lipoamide dehydrogenase deficiency: A newly discovered cause of acute hepatitis in adults

Nir Barak, David Huminer, Tsvi Segal, Ziv Ben Ari, Jonathan Halevy, Ran Tur Kaspa

Research output: Contribution to journalArticlepeer-review

Abstract

Lipoamide dehydrogenase deficiency is a rare disease, manifested in early childhood by lactic acidemia, progressive neurological damage and death in most cases. We report a case of lipoamide dehydrogenase deficiency in a 34-year-old Ashkenazi-Jewish woman. The deficiency manifested as acute hepatitis without cognitive impairment or acidosis. The patient's brother also had lipoamide dehydrogenase deficiency, diagnosed at the age of 20, and manifested as hepatocellular damage, lactic acidemia and myoglobinuria. We assume that the trigger for this hepatocellular damage was prolonged fasting, and that otherwise the patient might have gone undiagnosed. Other cases in Ashkenazi Jews of mild lipoamide dehydrogenase deficiency with hepatocellular injury but without central nervous system involvement are reviewed.

Original languageEnglish
Pages (from-to)482-484
Number of pages3
JournalJournal of Hepatology
Volume29
Issue number3
DOIs
StatePublished - Sep 1998

Keywords

  • Hepatitis
  • Lipoamide dehydrogenase deficiency

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