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Recurrent Seizures in an Adolescent Female-A Daunting Puzzle

Acute porphyrias are metabolic disorders resulting from deficiency of a specific enzyme involved in heme biosynthetic pathway. These deficiencies also affect normal renal physiology, as kidneys are also involved in heme synthesis. Sometimes, this could even lead to end stage renal disease. Acute Int...

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Autores principales: Subashri, Mohanasundaram, Prasad, N. D. Srinivasa, Fernando, Edwin, Raj, Yashwanth T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101672/
https://www.ncbi.nlm.nih.gov/pubmed/33994693
http://dx.doi.org/10.4103/ijn.IJN_192_19
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author Subashri, Mohanasundaram
Prasad, N. D. Srinivasa
Fernando, Edwin
Raj, Yashwanth T.
author_facet Subashri, Mohanasundaram
Prasad, N. D. Srinivasa
Fernando, Edwin
Raj, Yashwanth T.
author_sort Subashri, Mohanasundaram
collection PubMed
description Acute porphyrias are metabolic disorders resulting from deficiency of a specific enzyme involved in heme biosynthetic pathway. These deficiencies also affect normal renal physiology, as kidneys are also involved in heme synthesis. Sometimes, this could even lead to end stage renal disease. Acute Intermittent Porphyria, an autosomal dominant disorder arising from half-normal activity of hydroxymethylbilane synthase, is characterized by occurrence of vague neurovisceral attacks (abdominal pain, nausea, vomiting, constipation and neuropsychiatric symptoms), with urinary excretion of porphyrin precursors, such as 5-Amino-levulinic acid (ALA) and Porphobilinogen (PBG). Acute attacks are triggered by dehydration, diarrhea, steroids, low calorie diets. Treatment includes avoidance of precipitating factors, adequate hydration, high carbohydrate diet and heme replacement. Here, we present an adolescent female who had presented with recurrent abdominal pain, dyselectrolyemia with associated seizures, was diagnosed with Acute Intermittent Porphyria and recovered well with symptomatic management.
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spelling pubmed-81016722021-05-13 Recurrent Seizures in an Adolescent Female-A Daunting Puzzle Subashri, Mohanasundaram Prasad, N. D. Srinivasa Fernando, Edwin Raj, Yashwanth T. Indian J Nephrol Case Report Acute porphyrias are metabolic disorders resulting from deficiency of a specific enzyme involved in heme biosynthetic pathway. These deficiencies also affect normal renal physiology, as kidneys are also involved in heme synthesis. Sometimes, this could even lead to end stage renal disease. Acute Intermittent Porphyria, an autosomal dominant disorder arising from half-normal activity of hydroxymethylbilane synthase, is characterized by occurrence of vague neurovisceral attacks (abdominal pain, nausea, vomiting, constipation and neuropsychiatric symptoms), with urinary excretion of porphyrin precursors, such as 5-Amino-levulinic acid (ALA) and Porphobilinogen (PBG). Acute attacks are triggered by dehydration, diarrhea, steroids, low calorie diets. Treatment includes avoidance of precipitating factors, adequate hydration, high carbohydrate diet and heme replacement. Here, we present an adolescent female who had presented with recurrent abdominal pain, dyselectrolyemia with associated seizures, was diagnosed with Acute Intermittent Porphyria and recovered well with symptomatic management. Wolters Kluwer - Medknow 2021 2021-01-27 /pmc/articles/PMC8101672/ /pubmed/33994693 http://dx.doi.org/10.4103/ijn.IJN_192_19 Text en Copyright: © 2021 Indian Journal of Nephrology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Subashri, Mohanasundaram
Prasad, N. D. Srinivasa
Fernando, Edwin
Raj, Yashwanth T.
Recurrent Seizures in an Adolescent Female-A Daunting Puzzle
title Recurrent Seizures in an Adolescent Female-A Daunting Puzzle
title_full Recurrent Seizures in an Adolescent Female-A Daunting Puzzle
title_fullStr Recurrent Seizures in an Adolescent Female-A Daunting Puzzle
title_full_unstemmed Recurrent Seizures in an Adolescent Female-A Daunting Puzzle
title_short Recurrent Seizures in an Adolescent Female-A Daunting Puzzle
title_sort recurrent seizures in an adolescent female-a daunting puzzle
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101672/
https://www.ncbi.nlm.nih.gov/pubmed/33994693
http://dx.doi.org/10.4103/ijn.IJN_192_19
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