Fatty Acid Oxidation Disorder with Secondary Mitochondrial Energy Production Defect: A Case Report
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- 作者：Seema Pavaman Sindgikar (1)
Deepthi Raran Veetil (1)
Rathika D. Shenoy (1)
Vijaya Shenoy (1) - 关键词：Lactic acidosis ; Reye ; like ; Urine organic acids ; Very ; long ; chain acyl ; CoA dehydrogenase deficiency
- 刊名：Indian Journal of Clinical Biochemistry
- 出版年：2014
- 出版时间：October 2014
- 年：2014
- 卷：29
- 期：4
- 页码：514-516
- 全文大小：223 KB
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Deepthi Raran Veetil (1)
Rathika D. Shenoy (1)
Vijaya Shenoy (1)
1. Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575018, Karnataka, India - ISSN：0974-0422
文摘
The presentation of long-chain fatty acid oxidation disorders (FAOD), unlike short and medium-chain disorders can be with secondary defects in mitochondrial function along with typical features of FAOD. We report an infant with Reye-like presentation and acylcarnitine profile suggestive of very-long-chain acyl-CoA dehydrogenase deficiency who had lactic acidosis and urine gas chromatographic pattern of mitochondrial defects.