Acute hepatic porphyria (AHP) refers to a family of rare genetic diseases that affect the production of heme, a component of red blood cells. It can cause life threatening complications. AHP can cause ...

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 ...

A mutation that impacts an enzyme involved in heme biosynthesis causes porphyrias, which are inheritable metabolic disorders. There are different types of porphyrias based on the specific enzyme ...

Acute porphyrias are rare genetic disorders that present with neurologic and systemic symptoms, including abdominal pain, hyponatremia and seizures. When porphyria is suspected, a urine screening ...

Acute intermittent porphyria (AIP) is a rare condition that causes an enzyme deficiency. This can cause a person to experience abdominal pain, nausea, vomiting, and seizures. Porphyrias are rare ...

Induction of delta aminolevulinic acid synthase 1 (ALAS1) gene expression and accumulation of neurotoxic intermediates result in neurovisceral attacks and disease manifestations in patients with acute ...