Publication Type : Journal Article
Publisher : Springer Science and Business Media LLC
Source : Egyptian Journal of Medical Human Genetics
Url : https://doi.org/10.1186/s43042-020-00121-0
Keywords : Multiple acyl-CoA dehydrogenase deficiency, MADD,Glutaric aciduria type II, Fatty acid metabolism
Campus : Kochi
School : School of Medicine
Department : Medical Oncology
Year : 2020
Abstract :
Background : Multiple acyl-CoA dehydrogenase deficiency (MAAD) is a rare metabolic disorder resulting from an abnormality in fatty acid oxidation. There are three types of presentations: neonatal onset with or without congenital anomalies and the late-onset type. There is much clinical heterogeneity in the presentation of late-onset variants; hence, the diagnosis is often delayed or missed.
Case presentation : Here, we report the successful management of a 41-year-old female with late-onset MAAD due to mutation in the ETFDH gene who presented with carcinoma of the breast. Chemotherapy was challenging because there were no previous reports regarding the treatment of such cases.
Conclusion : The diagnosis was made based on metabolic workup and gene mutation analysis. Unplanned surgery and chemotherapy can be fatal in these patients due to metabolic complications. With proper precautions and monitoring, the patient tolerated surgery and chemotherapy without any complications.
Cite this Research Publication : Keechilat Pavithran, Divya Pachat, Dehannathparambil Kottarathil Vijaykumar, Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer, Egyptian Journal of Medical Human Genetics, Springer Science and Business Media LLC, 2020, https://doi.org/10.1186/s43042-020-00121-0