Case Report
Volume: 5 | Issue: 9 | Published: Sep 25, 2021 | Pages: 256 - 259 | DOI: 10.24911/ejmcr/173-1608540583
Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system
Authors: Deepika Madireddy Lakshmi Naga , Rashmi Bhuwalka , Tella Sunitha , Pratibha Nallari , Venkateshwari Ananthapur
Article Info
Authors
Deepika Madireddy Lakshmi Naga
Institute of Genetics Hospital for Genetic Diseases, Osmania University, Hyderabad, India
Rashmi Bhuwalka
Institute of Genetics Hospital for Genetic Diseases, Osmania University, Hyderabad, India
Tella Sunitha
Institute of Genetics Hospital for Genetic Diseases, Osmania University, Hyderabad, India
Pratibha Nallari
Institute of Genetics Hospital for Genetic Diseases, Osmania University, Hyderabad, India
Venkateshwari Ananthapur
Institute of Genetics Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
Publication History
Received: December 21, 2020
Revised: July 08, 2021
Accepted: July 08, 2021
Published: September 25, 2021
Abstract
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.
Keywords: Peroxisomal Acyl coA Oxidase deficiency, Neurological Regression, Fatty Acids, Genotype phenotype correlation, green
Pubmed Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR. 2021; 25 (September 2021): 256-259. doi:10.24911/ejmcr/173-1608540583
Web Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. https://ejmcr.com/articles/1120 [Access: December 25, 2024]. doi:10.24911/ejmcr/173-1608540583
AMA (American Medical Association) Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR. 2021; 25 (September 2021): 256-259. doi:10.24911/ejmcr/173-1608540583
Vancouver/ICMJE Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR. (2021), [cited December 25, 2024]; 25 (September 2021): 256-259. doi:10.24911/ejmcr/173-1608540583
Harvard Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur (2021) Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR, 25 (September 2021): 256-259. doi:10.24911/ejmcr/173-1608540583
Chicago Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur. "Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system." 25 (2021), 256-259. doi:10.24911/ejmcr/173-1608540583
MLA (The Modern Language Association) Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur. "Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system." 25.September 2021 (2021), 256-259. Print. doi:10.24911/ejmcr/173-1608540583
APA (American Psychological Association) Style
Deepika Madireddy Lakshmi Naga, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, Venkateshwari Ananthapur (2021) Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. , 25 (September 2021), 256-259. doi:10.24911/ejmcr/173-1608540583