2023年4月5日 · 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 …

Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous …

The term porphyria describes a group of eight disorders that affect the skin and nervous system. Most of these disorders are inherited (passed down from family members). One type of …

Porphyrias are rare disorders that mainly affect the skin or nervous system. These disorders are usually inherited, meaning they are caused by gene mutations passed from parents to children.

2024年10月3日 · Porphyria is a group of inherited disorders caused by an abnormality in one of the steps your body uses to make heme. Heme is the protein in your red blood cells that …

2023年4月5日 · Treatment depends on the type of porphyria you have and how severe your symptoms are. Treatment includes medicine. It also includes identifying and avoiding symptom …

2020年7月13日 · Porphyrias are a group of rare inherited blood disorders. People with these disorders have problems making a substance called heme in their bodies. Heme is made of …

With the exception of the sporadic type of porphyria cutanea tarda (PCT, which also has an inherited type), the porphyrias are inherited diseases. Autosomal dominant inheritance is most …

2025年1月16日 · porphyria, any of a group of diseases characterized by the marked overproduction and excretion of porphyrins or of one or another of their precursors. The …

2023年7月17日 · 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 …