The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of urine homeostasis||90%|
|Nausea and vomiting||90%|
|Abnormality of lipid metabolism||7.5%|
|Cranial nerve paralysis||7.5%|
|Neoplasm of the liver||7.5%|
|Acute episodes of neuropathic symptoms||-|
|Autosomal dominant inheritance||-|
|Elevated urinary delta-aminolevulinic acid||-|
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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Can you provide me with general information about acute intermittent porphyria? How can I find a researcher or physician who is knowledgeable about this condition? See answer
My child may be at risk to develop acute intermittent porphyria due to a history of the disease on his father's side of the family. Is it possible for an individual with the mutation causing this condition to be asymptomatic? How old must one be in order to be tested? See answer
I was recently diagnosed with acute intermittent porphyria. I would like to learn more about this condition. I was also informed some time ago that the porphyrias can be disabling. What information can you provide? See answer
My daughter may have acute intermittent porphyria. How is this condition diagnosed? See answer
What can you tell me about acute intermittent porphyria and Chester porphyria? See answer