Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria - PubMed (original) (raw)
Case Reports
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria
B A Barshop et al. Mol Genet Metab. 2000 Jan.
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.
Copyright 2000 Academic Press.