Porphyrias and haem related disorders

La Revue de médecine interne
K Peoc'hHervé Puy

Abstract

The hereditary porphyrias comprise a group of eight metabolic disorders of the haem biosynthesis pathway characterised by acute neurovisceral symptoms, skin lesions or both. Each porphyria is caused by abnormal function of a separate enzymatic step resulting in a specific accumulation of haem precursors. Seven porphyrias are the consequence of a partial enzyme deficiency while a gain of function mechanism has been recently characterised in a novel porphyria. Acute porphyrias present with severe abdominal pain, nausea, constipation, confusion and seizure, which may be life threatening. Cutaneous porphyrias can be present with either acute painful photosensitivity or skin fragility and blisters. Rare recessive porphyrias usually manifest in early childhood with either severe chronic neurological symptoms or chronic haemolysis and severe cutaneous photosensitivity. Porphyrias are still underdiagnosed, but once they are suspected, and depending on the clinical presentation, a specific and simple front line test allows the diagnosis in all symptomatic patients. Diagnosis is essential to institute as soon as possible a specific treatment. Screening families to identify presymptomatic carriers is crucial to prevent chronic complicatio...Continue Reading

References

Jul 14, 1995·Clinica Chimica Acta; International Journal of Clinical Chemistry·V Da SilvaY Nordmann
Jun 20, 1998·The New England Journal of Medicine·C AndantJ C Deybach
Oct 16, 1999·The American Journal of the Medical Sciences·P Ponka
Aug 16, 2003·Dermatologic Therapy·Gillian M Murphy
Jun 5, 2004·Proceedings of the National Academy of Sciences of the United States of America·Michael PodvinecUrs A Meyer
Aug 27, 2005·Cell·Christoph HandschinBruce M Spiegelman
Dec 31, 2005·American Journal of Human Genetics·Laurent GouyaJean-Charles Deybach
Mar 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·John D PhillipsJames P Kushner
Sep 13, 2008·The Journal of Investigative Dermatology·S Alexander HolmeMichael N Badminton
Mar 3, 2009·Seminars in Dialysis·Katharine B CordovaLeslie Robinson-Bostom
Mar 17, 2010·Lancet·Hervé PuyJean-Charles Deybach
May 25, 2010·Proceedings of the National Academy of Sciences of the United States of America·Des R RichardsonPrem Ponka
May 28, 2010·Protein Science : a Publication of the Protein Society·Gunhild LayerDirk W Heinz
Feb 18, 2011·Journal of Internal Medicine·J-C Deybach, H Puy
Jan 27, 2012·The New England Journal of Medicine·Robert E Fleming, Prem Ponka
Apr 19, 2012·Liver International : Official Journal of the International Association for the Study of the Liver·F Ryan CaballesHerbert L Bonkovsky
Jul 14, 2012·Blood·Manisha Balwani, Robert J Desnick
Jul 17, 2012·The American Journal of Medicine·François DanionFrancis Schneider
Sep 19, 2012·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Ashwani K SingalKarl E Anderson
Nov 2, 2012·Journal of Inherited Metabolic Disease·George ElderJean-Charles Deybach
Dec 12, 2012·The Journal of Investigative Dermatology·Cristina Bulai LivideanuMarie C Marguery
Jan 17, 2013·Clinical and Molecular Hepatology·Pyoung-Jae ParkSung-Gyu Lee
Jan 21, 2014·Analytical Chemistry·Mickael CarichonGildas Bertho
Apr 5, 2014·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Ashwani K SingalBrendan M McGuire
Apr 15, 2014·The International Journal of Biochemistry & Cell Biology·Chadi HomedanYves Malthièry
May 14, 2014·Proceedings of the National Academy of Sciences of the United States of America·Makiko YasudaRobert J Desnick
Jun 4, 2014·Dermatologic Clinics·Danja Schulenburg-BrandMichael N Badminton
Jul 13, 2014·The American Journal of Medicine·Herbert L BonkovskyRobert J Desnick
Dec 17, 2014·The British Journal of Dermatology·G BiolcatiE I Minder
Jul 6, 2015·Clinics and Research in Hepatology and Gastroenterology·Zoubida KarimHervé Puy

❮ Previous
Next ❯

Citations

Oct 18, 2016·La Revue de médecine interne·L RaffrayS Mohamed
Nov 26, 2016·La Revue de médecine interne·N GirszynA Masseau

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Lancet
Hervé PuyJean-Charles Deybach
Clinics and Research in Hepatology and Gastroenterology
Zoubida KarimHervé Puy
International Journal of Clinical Practice
M N Badminton, G H Elder
Lancet
Raili Kauppinen
Internal and Emergency Medicine
M D CappelliniElena Di Pierro
© 2022 Meta ULC. All rights reserved