scholarly journals Acute porphyrias – A neurological perspective

2021 ◽  
Author(s):  
Lea M. Gerischer ◽  
Franziska Scheibe ◽  
Astrid Nümann ◽  
Martin Köhnlein ◽  
Ulrich Stölzel ◽  
...  
Keyword(s):  
Acute Porphyrias

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

2021 ◽  
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  
Keyword(s):  
Central Nervous System Involvement ◽  
Therapeutic Interventions ◽  
Inborn Errors ◽  
Intravenous Glucose ◽  
Inherited Metabolic Disorders ◽  
Life Threatening ◽  
Acute Porphyrias ◽  
Diagnostic Work ◽  
Atypical Presentations ◽  
Interfering Rna

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

The Acute Porphyrias

1987 ◽  
pp. 73-117 ◽  
Author(s):  
Michael R. Moore ◽  
Kenneth E. L. Mccoll ◽  
Claude Rimington ◽  
Abraham Goldberg
Keyword(s):  
Acute Porphyrias

Safe prescribing in the autosomal dominant acute porphyrias

2015 ◽  
Vol 294 (1) ◽  
pp. 1135-1138
Author(s):  
Cerys D. Lockett ◽  
Michael N. Badminton
Keyword(s):  
Autosomal Dominant ◽  
Acute Porphyrias

The acute porphyrias

1999 ◽  
Vol 21 (6) ◽  
pp. 373-377 ◽  
Author(s):  
Neil Gordon
Keyword(s):  
Acute Porphyrias

Acute Porphyrias: Pathogenesis of Neurological Manifestations

1998 ◽  
Vol 18 (01) ◽  
pp. 43-52 ◽  
Author(s):  
Urs Meyer ◽  
Macé Schuurmans ◽  
Raija Lindberg
Keyword(s):  
Neurological Manifestations ◽  
Acute Porphyrias

Review: Molecular pathogenesis of hepatic acute porphyrias

1996 ◽  
Vol 11 (11) ◽  
pp. 1046-1052 ◽  
Author(s):  
BERNARD GRANDCHAMP ◽  
HERVÉ PUY ◽  
JÉROME LAMORIL ◽  
JEAN CHARLES DEYBACH ◽  
YVES NORDMANN
Keyword(s):  
Molecular Pathogenesis ◽  
Acute Porphyrias

Czech Society of Hepatology guidelines for diagnosis and treatment of acute porphyrias

2017 ◽  
Vol 71 (2) ◽  
pp. 101-104
Author(s):  
Radan Brůha ◽  
Libor Vítek ◽  
Jan Šperl ◽  
Petr Urbánek
Keyword(s):  
Diagnosis And Treatment ◽  
Acute Porphyrias ◽  
Czech Society

scholarly journals Multiple Sclerosis or Neuromyelitis Optica? Re-evaluating an 18th-century Illness Using 21st-century Software

2012 ◽  
Vol 3 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Peter Garrard ◽  
Timothy J Peters
Keyword(s):  
Multiple Sclerosis ◽  
Neuromyelitis Optica ◽  
18Th Century ◽  
Alternative Possibility ◽  
Acute Porphyria ◽  
Laboratory Findings ◽  
Historical Figure ◽  
Acute Porphyrias ◽  
George Iii ◽  
Symptom Diary

In this paper we report the application of an extensive database of symptoms, signs, laboratory findings and illnesses, to the diagnosis of an historical figure. The medical diagnosis of Augustus d'Este (1794–1848) – widely held to be the first documented case of multiple sclerosis – is reviewed, using the detailed symptom diary, which he kept over many years, as clinical data. Some of the reported features prompted the competing claim that d'Este suffered from acute porphyria, which in turn was used in support of the hypothesis that his grandfather, King George III, also suffered from the disease. We find that multiple sclerosis is statistically the most likely diagnosis, with neuromyelitis optica a strong alternative possibility. The database did not support a diagnosis of any of the acute porphyrias.

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