Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria

Mol Genet Metab. 2000 Jan;69(1):64-8. doi: 10.1006/mgme.1999.2946.

Abstract

A patient with 2-oxoadipic aciduria and 2-aminoadipic aciduria presented at 2 years of age with manifestations typical of organic acidemia, episodes of ketosis and acidosis, progressive to coma. This resolved and the key metabolites disappeared from the urine and blood. At 9 years of age she developed typical Kearns-Sayre syndrome with complete heart block, retinopathy, and ophthalmoplegia. Southern blot revealed a deletion in the mitochondrial genome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 2-Aminoadipic Acid / blood
  • 2-Aminoadipic Acid / urine
  • Adipates / blood
  • Adipates / urine*
  • Adult
  • Black People / genetics
  • Child
  • Child, Preschool
  • Coma / blood
  • Coma / genetics
  • Coma / urine
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics
  • Female
  • Humans
  • Hydrogen-Ion Concentration
  • Kearns-Sayre Syndrome / blood
  • Kearns-Sayre Syndrome / genetics
  • Kearns-Sayre Syndrome / urine*
  • Ketosis / blood
  • Ketosis / genetics
  • Ketosis / urine
  • Macular Degeneration / blood
  • Macular Degeneration / genetics
  • Macular Degeneration / urine
  • Male
  • Sequence Deletion / genetics

Substances

  • Adipates
  • DNA, Mitochondrial
  • 2-Aminoadipic Acid
  • alpha-ketoadipic acid