Journal
MOLECULAR GENETICS AND METABOLISM
Volume 69, Issue 1, Pages 64-68Publisher
ACADEMIC PRESS INC
DOI: 10.1006/mgme.1999.2946
Keywords
-
Funding
- NCRR NIH HHS [MO1RR0827] Funding Source: Medline
- NATIONAL CENTER FOR RESEARCH RESOURCES [M01RR000827] Funding Source: NIH RePORTER
Ask authors/readers for more resources
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. (C) 2000 Academic Press.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available