Literature DB >> 19143888

Nitric oxide and the clinical manifestations of acute porphyria.

J Thachil1.   

Abstract

The porphyrias comprise a clinically and genetically heterogenous group of diseases mostly arising from a genetically determined dysfunction of specific enzymes along the pathway of haeme biosynthesis. This leads to a pathological accumulation and measurable excretion of porphyrins and/or porphyrin precursors, which is considered the cause of the clinical features related to this group of diseases. However, acute porphyria can present with varied symptoms, which have some features in common with other diseases where nitric oxide has been shown to play a role. The article describes the possibility of nitric oxide depletion in porphyria contributing to its clinical manifestations.

Entities:  

Mesh:

Substances:

Year:  2008        PMID: 19143888     DOI: 10.1111/j.1445-5994.2008.01778.x

Source DB:  PubMed          Journal:  Intern Med J        ISSN: 1444-0903            Impact factor:   2.048


  2 in total

1.  A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.

Authors:  Yang Yang; Xiyun Chen; Huijuan Wu; Hua Peng; Wenjing Sun; Bin He; Zhengang Yuan
Journal:  Mol Med Rep       Date:  2020-05-04       Impact factor: 2.952

Review 2.  Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias.

Authors:  Andrea Ricci; Elena Di Pierro; Matteo Marcacci; Paolo Ventura
Journal:  Diagnostics (Basel)       Date:  2021-11-26
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.