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|
|Abnormal urinary color||
Abnormal urinary colour
Abnormal urine color
|Nausea and vomiting||0002017|
|30%-79% of people have these symptoms|
Pins and needles feeling
|5%-29% of people have these symptoms|
|Cranial nerve paralysis||0006824|
Low blood sodium levels
Renal failure in adulthood
|Percent of people who have these symptoms is not available through HPO|
|Acute episodes of neuropathic symptoms||0003489|
Painful or difficult urination
|Elevated urinary delta-aminolevulinic acid||0003163|
Fast heart rate
Loss of bladder control
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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.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
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