Fatty Acid Oxidation Disorder with Secondary Mitochondrial Energy Production Defect: A Case Report

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...

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Bibliographic Details
Published in:Indian journal of clinical biochemistry 2014-10, Vol.29 (4), p.514-516
Main Authors: Sindgikar, Seema Pavaman, Veetil, Deepthi Raran, Shenoy, Rathika D., Shenoy, Vijaya
Format: Article
Language:English
Subjects:
Biochemistry
Biomedical and Life Sciences
Case Report
Chemistry/Food Science
Enzymes
Fatty acids
Life Sciences
Microbiology
Mitochondria
Muscles
Oxidation-reduction reaction
Pathology
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Summary: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.
ISSN:0970-1915
0974-0422
DOI:10.1007/s12291-013-0391-3