Swedish porphyria, pyrroloporphyria, intermittent acute porphyria
Porphobilinogen
Specialty
Medical genetics
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.[1][2][3]
^Whatley SD, Roberts AG, Llewellyn DH, Bennett CP, Garrett C, Elder GH (September 2000). "Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene". Human Genetics. 107 (3): 243–8. doi:10.1007/s004390000356. PMID 11071386. S2CID 40036227.
^Solis C, Martinez-Bermejo A, Naidich TP, Kaufmann WE, Astrin KH, Bishop DF, Desnick RJ (November 2004). "Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias". Archives of Neurology. 61 (11): 1764–70. doi:10.1001/archneur.61.11.1764. PMID 15534187.
^Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias at eMedicine
and 29 Related for: Acute intermittent porphyria information
Acuteintermittentporphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen...
mutation. Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acuteintermittentporphyria (AIP), variegate...
identified. Unlike acuteintermittentporphyria, individuals with HCP can present with cutaneous findings similar to those found in porphyria cutanea tarda...
group of disorder called porphyrias, which include acuteintermittentporphyria, congenital erythropoetic porphyria, porphyria cutanea tarda, hereditary...
When symptoms occur, they can include acute attacks (similar to acuteintermittentporphyria) or skin damage. Acute attacks usually begin in adulthood and...
(as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acuteintermittentporphyria. Patients can also have gastrointestinal...
ex-girlfriend Stacy Warner, who, after he diagnosed her husband with acuteintermittentporphyria, has taken a job in the legal department of Princeton-Plainsboro...
agent in certain cases for the treatment of porphyria attacks, particularly in acuteintermittentporphyria. Administration of hemin can reduce heme deficits...
of the small blood vessels in the pancreas), and porphyria—particularly acuteintermittentporphyria and erythropoietic protoporphyria.[citation needed]...
of porphyrins, with references by EC number and the OMIM database. The porphyria associated with the deficiency of each enzyme is also shown: A common...
well-known health issue involving porphobilinogen deaminase is acuteintermittentporphyria, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane...
et al. (2018). "Patient Perspective on AcuteIntermittentPorphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations". Patient...
husband, Mark (Currie Graham). House correctly diagnoses Mark with acuteintermittentporphyria, and so he has to remain at the hospital for close monitoring...
PMID 8862875. Stewart, M. F.; Croft, J.; Reed, P.; New, J. P. (2006). "Acuteintermittentporphyria and phaeochromocytoma: shared features". Journal of Clinical...
elucidate the cause of dysautonomia can include: Evaluation for acute (intermittent) porphyria Evaluation of cerebrospinal fluid by lumbar puncture for infectious/...
episcleritis, and scleritis. Ulcerative colitis is also associated with acuteintermittentporphyria. Many hypotheses have been raised for environmental factors contributing...
Mass in the abdomen Reactive arthritis Acuteintermittentporphyria Hereditary coproporphyria Variegate porphyria Dysuria at the U.S. National Library of...
Givlaari, is a medication used for the treatment of adults with acute hepatic porphyria. Givosiran is a small interfering RNA (siRNA) directed towards...
porphobilinogen deaminase, also known as hydroxymethylbilane synthase. Acuteintermittentporphyria causes an increase in urinary porphobilinogen. Paul R. Ortiz...
that Mark had experienced delusions, and actually suffered from acuteintermittentporphyria (AIP). With support from Stacy, but not from his team, House...
PMC 2928618. PMID 20504907. Sim M, Hudon R (October 1979). "Acuteintermittentporphyria associated with postural hypotension". Canadian Medical Association...
development. Porphyria Insertion of Alu element into the PBGD gene leads to interference with the coding region and leads to acuteintermittentporphyria (AIP)...
Arnold has countered that the symptoms are more consistent with acuteintermittentporphyria, noting that the popular link between bipolar disorder and creativity...
believed that pyroluria is a form of schizophrenic porphyria, similar to acuteintermittentporphyria where both pyrroles and porphyrins are excreted in...
differentiates it from myasthenia gravis. Genetic: Kennedy's disease, acuteintermittentporphyria. Vascular causes: medullary infarction, such as lateral or medial...
Global Information