Porphyria: A metabolic disorder

Jennifer Ezinne Ugbala 1, Kingsley Uchechukwu Eke 2, Justice Obunda Nyeche 3, Mary Francisca Effiong 4, Chika Kalu Ndukwe 5, Oluwatosin Opeyemi Ogunwola 6, Chinwendu Vivian Achonwa 7, Chinenye Vivian Nwachukwu 8, Kosiso Johncross Omeje 8, Chukwu Chigozie David 9, Orume Maryam Sylvanus 10 and Ikenna Kingsley Uchendu 8, *

1 Department of Medical Laboratory Science, Madonna University, Elele, Nigeria.
2 Department of Medical Laboratory Science, Abia State University, Uturu. Nigeria.
3 Department of Pharmacy, University of Port Harcourt, Nigeria.
4 Department of the N.A Semashko public health and Healthcare, Erismann institute of public health, I.M Sechenov First Moscow State Medical university, Russia.
5 Department of Medical Laboratory Science, Imo State University, Owerri, Imo State, Nigeria.
6 Department of Medical Laboratory Science, Ladoke Akintola University of Technology, Ogbomoso, Oyo State Nigeria.
7 Department of Medical Rehabilitation (Physiotherapy), Nnamdi Azikiwe University, Anambra State.
8 Department of Medical Laboratory Science, University of Nigeria, Enugu Campus, Nigeria., Nigeria
9 Department of Medical Laboratory Science, King David Federal school of medical sciences, Uburu Ebonyi State, Nigeria.
10 Department of Geography, Nasarawa State University Keffi, Nasarawa State, Nigeria.
 
Review
Open Access Research Journal of Life Sciences, 2023, 05(02), 105–120.
Article DOI: 10.53022/oarjls.2023.5.2.0041
 
Publication history: 
Received on 29 April 2023; revised on 06 June 2023; accepted on 09 June 2023
 
Abstract: 
Porphyrias are heterogenous group of metabolic disorders arising from defects in the heme biosynthetic pathway, each being characterized by a specific partial enzyme deficiency. Also, a flawed gene that control the action of enzyme in the heme synthesis creates a lack of heme and build up of porphyrin. Porphyria can be triggered by environmental factors such as; infections, cigarette smoking, antibiotics, etc. Porphyria can be classified into acute porphyria that causes neurological symptoms, and cutaneous porphyria that cause photosensitivity, affecting the skin. In cutaneous porphyria, the two distinct pattern of skin disease seen are the immediate photosensitivity and vesiculo-erosive skin disease. Symptoms include; abdominal pain, muscle weakness, hallucination, pain in the back or chest, burning pain on the skin, red or brown urine. Long term complication include paralysis, skin scarring, permanent hair loss, gall stones, breathing difficulties, dehydration. It can be diagnosed using blood, urine and stool samples, urine estimation of porphobilinogen is also done. Treatment of porphyria include; administration of heme arginate, regular blood removal, low doses of antimalarial drug, narrow band UVB therapy, avoidance of triggers. It can be prevented by avoiding factors that precipitate it such as; stress, fasting, infection, alcohol.
 
Keywords: 
Porphyrias; Metabolic disorder; Enzyme deficiency; Porphyrin; Porphobilinogen
 
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Copyright © 2023 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0