Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria

被引：12

作者：

Barshop, BA ^{[1
]}

Nyhan, WL

Naviaux, RK

McGowan, KA

Friedlander, M

Haas, RH

机构：

[1] Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA

[2] Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA

[3] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA

[4] Univ Calif San Diego, Inst Genet Mol, La Jolla, CA 92093 USA

[5] Scripps Clin & Res Fdn, Dept Ophthalmol, La Jolla, CA 92093 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2000年 / 69卷 / 01期

关键词：

D O I：

10.1006/mgme.1999.2946

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：64 / 68

页数：5

共 18 条

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