Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria.
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.
Barshop
B A
BA
Departments of Pediatrics, Medicine and Neurosciences, The Institute of Molecular Genetics, University of California San Diego, California 92093, USA.
Nyhan
W L
WL
Naviaux
R K
RK
McGowan
K A
KA
Friedlander
M
M
Haas
R H
RH
D015074:2-Aminoadipic Acid / Q000097:blood / Q000652:urine; D000272:Adipates / Q000097:blood / Q000652:urine*; D000328:Adult; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003128:Coma / Q000097:blood / Q000235:genetics / Q000652:urine; D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007625:Kearns-Sayre Syndrome / Q000097:blood / Q000235:genetics / Q000652:urine*; D007662:Ketosis / Q000097:blood / Q000235:genetics / Q000652:urine; D008268:Macular Degeneration / Q000097:blood / Q000235:genetics / Q000652:urine; D008297:Male; D017384:Sequence Deletion / Q000235:genetics
D000272:Adipates; D004272:DNA, Mitochondrial; D015074:2-Aminoadipic Acid; C001918:alpha-ketoadipic acid