Porphyria

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    Related websites

    Porphyria - Symptoms and causes - Mayo Clinic

    WEBApr 5, 2023 · porphyria (por-FEAR-e-uh) refers to a group of rare disorders that result from a buildup of natural chemicals called porphyrins in the body. Porphyrins are needed to make heme, a part of hemoglobin. Hemoglobin is a protein in red blood cells. It carries oxygen to the body's organs and tissues.

    Mayoclinic.org


    Porphyria - Wikipedia

    WEBporphyria is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria, as symptoms are …

    En.wikipedia.org


    Porphyria - NIDDK - National Institute of Diabetes and Digestive …

    WEBWhat are porphyrias? What are the types of porphyria? How common are porphyrias? Who is more likely to get porphyria? What are the complications of porphyrias? What are the symptoms of porphyria? What causes porphyrias?

    Niddk.nih.gov


    Porphyria - Diagnosis and treatment - Mayo Clinic

    WEBApr 5, 2023 · porphyria. This group of disorders results from a buildup of natural chemicals in the body that affect the nervous system and skin. Learn how to avoid symptom triggers.

    Mayoclinic.org


    Acute intermittent porphyria - Symptoms, diagnosis and treatment …

    WEBSep 5, 2023 · Acute intermittent porphyria (AIP) is a rare autosomal dominant inherited disorder characterised by a partial deficiency of porphobilinogen deaminase, which leads to the accumulation of porphyrin precursors and porphyrins in the body. Most individuals remain asymptomatic, but symptoms can be trig

    Bestpractice.bmj.com


    Acute Porphyria - StatPearls - NCBI Bookshelf

    WEBJul 17, 2023 · Acute porphyrias are a group of rare disorders characterized by an enzymatic defect in the heme biosynthetic pathway. Patients present with acute, debilitating, and at times life-threatening symptoms that may be precipitated by medications, hormonal changes, starvation, or other factors.

    Ncbi.nlm.nih.gov


    Acute Intermittent Porphyria - StatPearls - NCBI Bookshelf

    WEBMay 1, 2023 · Acute intermittent porphyria (AIP) ranks as the most common and severe form of acute porphyria. Other acute porphyrias include hereditary coproporphyria (HCP), variegate porphyria (VP), and 5-aminolevulinic acid (ALA) dehydratase deficiency porphyria (Doss porphyria).

    Ncbi.nlm.nih.gov


    Porphyrias: Overview of classification and evaluation - UpToDate

    WEBMay 15, 2024 · The porphyrias are metabolic disorders caused by altered activities of the eight enzymes in the heme biosynthetic pathway. A distinct type of porphyria is associated with each enzyme. Although uncommon, porphyrias can be encountered by clinicians in …

    Uptodate.com


    Overview of Porphyrias - Overview of Porphyrias - Merck Manual

    WEBporphyrias are rare disorders in which there are defects in the pathway of heme synthesis due to genetic or acquired deficiencies of enzymes of the heme biosynthetic pathway.

    Merckmanuals.com


    Porphyrias - Symptoms, Causes, Treatment | NORD

    WEBAug 2, 2022 · porphyrias are a group of at least eight related disorders that primarily affect the skin or the nervous system, and sometimes the liver and other organs. porphyrias occur when there is an abnormality in the pathway for making heme, a chemical that is an essential component of many enzymes and other molecules, many of which interact with …

    Rarediseases.org


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