Porphyria - Symptoms and causes - Mayo Clinic
网页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 heme, a part of hemoglobin. Hemoglobin is a protein in red blood cells. It carries oxygen to the body's organs and tissues.
Porphyria - Wikipedia
网页Porphyria 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 system are also known as acute porphyria, as symptoms are rapid in …
Porphyria: Symptoms, Causes, Treatments - Cleveland Clinic
网页2018年2月15日 · 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 porphyria, porphyria cutanea tarda (PCT), isn’t always inherited.
Porphyria - Diagnosis and treatment - Mayo Clinic
网页2023年4月5日 · If you have symptoms of porphyria, you're likely to start by seeing your primary care provider. However, because porphyria can be difficult to diagnose, you may be referred to a specialist in blood disorders (hematologist) or skin conditions (dermatologist).
卟啉病 - 症状与病因 - 妙佑医疗国际 - Mayo Clinic
网页2023年6月17日 · 卟啉病是指由体内称为“卟啉”的天然化学物质堆积而引起的一组罕见疾病。. 卟啉是制造血红素（血红蛋白的一部分）的必需物质。. 血红蛋白是红细胞中的一种蛋白质。. 它负责将氧气输送至身体各个器官和组织。. 需要八种酶才能将卟啉转化为血红素。. 如果 ...
Porphyria - NIDDK - National Institute of Diabetes and Digestive …
网页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. If you have porphyria, cells fail to change chemicals in your body—called porphyrins and porphyrin precursors—into heme, the …
Acute Porphyria - StatPearls - NCBI Bookshelf
网页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 life-threatening symptoms that may be precipitated by medications, hormonal changes, starvation, or other factors.
Overview of Porphyrias - Overview of Porphyrias - The Merck …
网页More Information. Porphyrias are a group of disorders caused by deficiencies of enzymes involved in the production of heme. Heme is a chemical compound that contains iron and gives blood its red color. Heme is a key component of several important proteins in the body.
Overview of Porphyrias - Overview of Porphyrias - The Merck …
网页Porphyrias 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. These deficiencies, coupled with other factors, especially up-regulation of the first and normally rate-controlling step in the pathway, allow heme precursors to ...
Porphyria | New England Journal of Medicine
网页2017年8月31日 · The porphyrias are disorders of heme synthesis, which has eight steps (Figure 1). Each type of porphyria involves a defect, either inherited or acquired, in a pathway enzyme.