期刊
MOLECULAR GENETICS AND METABOLISM
卷 69, 期 1, 页码 64-68出版社
ACADEMIC PRESS INC
DOI: 10.1006/mgme.1999.2946
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资金
- NCRR NIH HHS [MO1RR0827] Funding Source: Medline
- NATIONAL CENTER FOR RESEARCH RESOURCES [M01RR000827] Funding Source: NIH RePORTER
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.
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