Acute intermittent porphyria
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
AIP; Porphobilinogen deaminase deficiency; PBGD deficiency;
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;
Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an
• Gastrointestinal issues (e.g., nausea, vomiting, constipation, diarrhea, abdominal distention, ileus)
• Urinary tract issues (e.g., urinary retention, urinary incontinence, or dysuria)
• Neurological issues (e.g., muscle weakness in the arms or legs, paralysis)
• Psychiatric issues (e.g., insomnia, hysteria, anxiety, apathy or depression, phobias, psychosis, agitation, delirium, somnolence, or coma)
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Pain in stomach
[ more ]
|Elevated urinary delta-aminolevulinic acid||0003163|
|Increased urinary porphobilinogen||0012217|
|30%-79% of people have these symptoms|
|Cranial nerve paralysis||0006824|
Cognitive decline, progressive
Progressive cognitive decline
[ more ]
|Nausea and vomiting||0002017|
Renal failure in adulthood
[ more ]
Fast heart rate
[ more ]
|5%-29% of people have these symptoms|
[ more ]
Excessive, persistent worry and fear
[ more ]
|Distal muscle weakness||
Weakness of outermost muscles
|Excessive daytime somnolence||
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ]
[ more ]
Low blood sodium levels
Difficulty staying or falling asleep
[ more ]
|Motor axonal neuropathy||0007002|
|Proximal muscle weakness in lower limbs||0008994|
|Proximal muscle weakness in upper limbs||0008997|
|1%-4% of people have these symptoms|
Painful or difficult urination
[ more ]
Loss of bladder control
|Percent of people who have these symptoms is not available through HPO|
|Acute episodes of neuropathic symptoms||0003489|
Pins and needles feeling
[ more ]
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®. Click the "document" link above to view these guidelines.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Hemin(Brand name: Panhematin) Manufactured by Abbott Laboratories
FDA-approved indication: Amelioration of recurrent attacks of acute intermittent porphyria (AIP) temporarily related to the menstrual cycle in susceptible women and similar symptoms which occur in other patients with AIP, porphyria variegata and hereditary coproporphyria.
National Library of Medicine Drug Information Portal
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses with other acute hepatic porphyrias is dependent on the concentration of porphrins in urine and, particularly, in stools and plasma.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
American Association for the Study of Liver Diseases
1001 North Fairfax, 4th floor
Alexandria, VA 22314
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837 (Helpline)
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Acute intermittent porphyria. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Acute intermittent porphyria. Click on the link to view a sample search on this topic.
- Acute Intermittent Porphyria (AIP). American Porphyria Foundation. 2015; https://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP. Accessed 11/11/2015.
- Whatley SD, Badminton MN. Acute Intermittent Porphyria. GeneReviews. February 2013; https://www.ncbi.nlm.nih.gov/books/NBK1193/. Accessed 11/11/2015.
- Treatment Options. American Porphyria Foundation. 2015; https://www.porphyriafoundation.com/treatment. Accessed 11/11/2015.