Search results
Results from the WOW.Com Content Network
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias .
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 system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
The most well-known health issue involving porphobilinogen deaminase is acute intermittent porphyria, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme.
Acute intermittent porphyria: signs and symptoms. 5 Ps: [1] Pain in the abdomen Polyneuropathy Psychological abnormalities Pink urine
Defects in various enzymes in synthesis of heme can lead to group of disorder called porphyrias, which include acute intermittent porphyria, congenital erythropoetic porphyria, porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, and erythropoietic protoporphyria. [32]
Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. [1] HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified.
Get AOL Mail for FREE! Manage your email like never before with travel, photo & document views. Personalize your inbox with themes & tabs. You've Got Mail!
Acute intermittent porphyria: ALA DD Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) ALD Alcoholic liver disease: ALI Acute lung injury: ALL Acute lymphoblastic lymphoma, acute lymphocytic leukemia: ALS Amyotrophic lateral sclerosis: AMD Age-related macular degeneration: AML Acute myelogenous ...