Variegate porphyria (VP) is an autosomal dominant condition that results from the deficiency of protoporphyrinogen oxidase (PPOX, EC 1.3). The build-up of porphyrin precursors delta-aminolevulinic ...

Porphyria is a group of genetic disorders that result in built-up of chemicals called porphyrins in the body. Porphyrins are normally converted into heme, a constituent of hemoglobin with the help of ...

This page lists all known medications that could potentially lead to 'Variegate porphyria' as a side effect. It's important to note that mild side effects are quite common with medications. The ...

Use of the RNA inhibitor givosiran was shown to reduce expression of delta-aminolevulinic acid synthase 1, in turn reducing the severity of acute attacks and chronic symptoms for patients with severe ...

Heather McKinstry shares how repeated dismissal by doctors, especially hearing 'you don't look sick,' led her to doubt her own symptoms and delay proper care.

Porphyrias fall into two main categories based on their symptoms: acute forms cause severe abdominal pain and neurological symptoms during episodes, while cutaneous forms primarily cause skin ...

Porphyria cutanea tarda (PCT) is a blood disorder that primarily manifests through skin symptoms like blisters, scarring, and darkened patches after sun exposure, typically affecting individuals over ...

Acute hepatic porphyria (AHP) is one of a group of disorders that are triggered by a buildup of pigments called porphyrins in your liver and elsewhere. The disorder can cause nerve problems and other ...

A common factor in all types of porphyria is an increase in the rate limiting enzyme five aminolaevulinic (ALA) synthesis which initiates the haem biosynthesis. Porphyria is commonly classified ...

Porphyrins are light-activated chemicals that can be used to combat ills including tumors and diseases of the eye. But they have a dark side: when the wrong forms of them build up in the body, they ...