Vadym Pashkovskyi¹, Anatolii Sorokin¹, Larysa Tereshchenko¹* and Tetiana Pashkovska²

¹Сommunal Enterprise "Dnepropetrovsk Regional Clinical Hospital Named After I.I. Mechnikov" DRС", Dnipro, Ukraine

*Corresponding Author: Larysa Tereshchenko, Сommunal Enterprise "Dnepropetrovsk Regional Clinical Hospital Named After I.I. Mechnikov" DRС", Dnipro, Ukraine.

Received: November 18, 2022; Published: December 07, 2022

Abstract

Porphyrias belong to groups of metabolic diseases that develop as a result of genetic defects in enzyme systems of heme biosynthesis. However, some variants of porphyria are acquired due to possible intoxications and liver diseases. Disruption of porphyrin metabolism is unique to all types of this disease, as a result of which the content of porphyrins and their precursors increases in various organs and systems [1].The course of these diseases is characterized by a common triad: abdominal pain, neuropsychiatric disorders and neuropathy [6].

References

1. Anderson KE., et al. “The Online Metabolic and Molecular Basis of Inherited Disease (D.F. Bishop, ed.)” (2011): 1-153.
2. Bonkovsky HL. “Porphyrin and heme metabolism and the porphyries”. In Hepatology: A Textbook of Liver Disease (D. Zakim and T. Boyer, eds.) (1982): 351-393.
3. Brodie MJ., et al. “Hereditary Coproporphyria demonstration of the abnormalities in haem biosynthesis in peripheral blood”. QJM: An International Journal of Medicine2 (1977): 229-241.
4. Vaithamanithi-Mudumbai Sadagopa Ramanujam and Karl Elmo Anderson. “Porphyria Diagnostics-Part 1: A Brief UNIT 17.20 Overview of the Porphyrias”. Current Protocols in Human Genetics 86 (2015): 20.1-17.20.26.
5. Thunell S., et al. “Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias”. British Journal of Clinical Pharmacology 64 (2007): 668-6
6. Simon NG and Herkes GK. “The neurologic manifestations of the acute porphyrias”. Journal of Clinical Neuroscience 18 (2011): 1147-11
7. Albers JW and Fink JK. “Porphyric neuropathy”. Muscle and Nerve 30 (2004): 410-4
8. Pischik E and Kauppinen R. “Neurological manifestations of acute intermittent porphyria”. Cellular and Molecular Biology 55 (2009): 72-
9. Wu CL., et al. “Clinical presentation and electrophysiological findings of porphyric neuropathies: a follow-up study”. Muscle and Nerve 51 (2015): 363-369.
10. Bylesjö I., et al. “Epidemiology and clinical characteristics of seizures in patients with acute intermittent porphyria”. Epilepsia 37 (1996): 230-235.
11. Demily C and Sedel F. “Psychiatric manifestations of treatable hereditary metabolic disorders in adults”. Annals of General Psychiatry 13 (2014):
12. Whatley SD and Badminton MN. “Role of genetic testing in the management of patients with inherited porphyria and their families”. Annals of Clinical Biochemistry 50 (2013): 204-2
13. Peters TJ and Mills KR. “Porphyria for the neurologist: the bare essentials”. Practical Neurology 6 (2006): 255-258.

Citation

Citation: Larysa Tereshchenko., et al. “Porphyria: Clinical Manifestations at the Junction of Gastroenterology and Neurology. Case Report". Acta Scientific Gastrointestinal Disorders 6.1 (2023): 05-08.

Copyright

Copyright: © 2022 Larysa Tereshchenko., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.