Home|Journals|Articles by Year|Audio Abstracts

Case Report

EJMCR. 2021; 5(9): 256-259

Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system

Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur.

Cited by 0 Articles

Background: Peroxisomal acyl CoA oxidase deficiency is a very rare neurodegenerative disorder characterised by postnatal hypotonia, seizures, and neurological regression in early infancy.
Case Presentation: Here, we present a case of two children in a family affected with peroxisomal acyl CoA oxidase deficiency. Early onset of hypotonia, seizures, and psychomotor delay was observed in both the sibs. Plasma levels of very long chain fatty acids showed normal levels of phytanic acid, pristanic acid, C22, C24, C26, C26/C22, and C24/C22 ratios. Here, we describe a case where women in her second trimester and with two affected siblings with peroxisomal acyl CoA oxidase deficiency was referred to institute for genetic counselling.
Conclusion: Clinical exome analysis of the couple, two affected sibs and the fetus adds new insight into the clinical, neuroradiological, and molecular aspects of this disorder that represents one of the rarer inherited defects of peroxisomal function.

Key words: Peroxisomal Acyl coA Oxidase deficiency; Neurological Regression; Fatty Acids, Genotype – phenotype correlation

Full-text options

Share this Article

Online Article Submission
• ejmanager.com

ejPort - eJManager.com
Refer & Earn
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under Creative Commons Attribution 4.0 International License (CC BY), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.