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

J Hepatol. 1998 Sep;29(3):482-4. doi: 10.1016/s0168-8278(98)80069-x.

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.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Adult
  • Dihydrolipoamide Dehydrogenase / deficiency*
  • Female
  • Hepatitis / enzymology*
  • Humans
  • Treatment Outcome

Substances

  • Dihydrolipoamide Dehydrogenase