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
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
Authors
Correspondence to:
Venkateshwari Ananthapur, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India venkateshwari@yahoo.co.in
Publication history:
Received 21 Dec 2020
Revised 08 Jul 2021
Accepted 31 Jul 2021
Published online 25 Sep 2021
Published in print 26 Oct 2021
Naga DML, Bhuwalka R, Sunitha T, Nallari P, Ananthapur V. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR. 2021; 5(9): 256-259. doi:
10.24911/ejmcr/173-1608540583
Naga DML, Bhuwalka R, Sunitha T, Nallari P, Ananthapur V. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. https://www.ejmcr.com/?mno=33283 [Access: May 11, 2024]. doi:
10.24911/ejmcr/173-1608540583
Naga DML, Bhuwalka R, Sunitha T, Nallari P, Ananthapur V. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR. 2021; 5(9): 256-259. doi:
10.24911/ejmcr/173-1608540583
Naga DML, Bhuwalka R, Sunitha T, Nallari P, Ananthapur V. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR. (2021), [cited May 11, 2024]; 5(9): 256-259. doi:
10.24911/ejmcr/173-1608540583
Naga, D. M. L., Bhuwalka, . R., Sunitha, . T., Nallari, . P. & Ananthapur, . V. (2021) Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. EJMCR, 5 (9), 256-259. doi:
10.24911/ejmcr/173-1608540583
Naga, Deepika Madireddy Lakshmi, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, and Venkateshwari Ananthapur. 2021. Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. European Journal of Medical Case Reports, 5 (9), 256-259. doi:
10.24911/ejmcr/173-1608540583
Naga, Deepika Madireddy Lakshmi, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, and Venkateshwari Ananthapur. "Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system." European Journal of Medical Case Reports 5 (2021), 256-259. doi:
10.24911/ejmcr/173-1608540583
Naga, Deepika Madireddy Lakshmi, Rashmi Bhuwalka, Tella Sunitha, Pratibha Nallari, and Venkateshwari Ananthapur. "Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system." European Journal of Medical Case Reports 5.9 (2021), 256-259. Print. doi:
10.24911/ejmcr/173-1608540583
Naga, D. M. L., Bhuwalka, . R., Sunitha, . T., Nallari, . P. & Ananthapur, . V. (2021) Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system. European Journal of Medical Case Reports, 5 (9), 256-259. doi:
10.24911/ejmcr/173-1608540583