What is Plumbo porphyria?
Aminolevulinic acid dehydratase deficiency porphyria (also known as “Doss porphyria”, “plumboporphyria”, or “ADP”) is a rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme delta-aminolevulinic acid dehydratase (ALAD), which is required for normal heme synthesis.
What medications trigger porphyria?
In general, drugs that lead to increased activity of the hepatic P450 system, such as phenobarbital, sulfonamides, estrogens, and alcohol, are associated with porphyria.
What is ALAD deficiency porphyria mutation?
ALAD porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor ALA, which can potentially result in a variety of symptoms.
What foods should be avoided with porphyria?
People with porphyria are advised to maintain a diet with an average or higher-than-average intake of carbohydrates, which can lessen disease activity—but they are also advised to avoid refined sugars, corn syrup and heavily processed foods.
What can trigger porphyria?
Examples of triggers include:
- Exposure to sunlight.
- Certain medications, including hormone drugs.
- Recreational drugs.
- Dieting or fasting.
- Smoking.
- Physical stress, such as infections or other illnesses.
- Emotional stress.
- Alcohol use.
Is porphobilinogen a porphyrin?
Porphobilinogen (PBG), a porphyrin precursor, in urine. Delta-aminolevulinic acid (ALA), another porphyrin precursor, in urine.
What is a porphobilinogen urine test?
Urinary porphobilinogen (PBG) is elevated during the acute phase of the neurologic porphyrias. Urine and fecal porphyrin analysis should be performed to confirm the diagnosis and to distinguish between AIP, HCP and VP.
What triggers acute porphyria?
Most of these triggers are believed to stimulate increased heme production (synthesis) in the liver and include certain drugs, excessive alcohol consumption, fasting or dieting (e.g. caloric restriction), stress, infections or certain hormonal (endocrine) factors, often in combination.
What is the meaning of alad?
ALAD
| Acronym | Definition |
|---|---|
| ALAD | Delta-Aminolevulinic Acid Dehydratase (lead poisoning indicator) |
| ALAD | Delta-Aminolevulinate Dehydratase (gene) |
| ALAD | Automatic Liquid Agent Detector |
| ALAD | Academic Librarians Assisting the Disabled |
What can people with porphyria eat?
Eat easily digestible foods, but predominantly carbohydrates. For example: bread, cereal, porridge, rice pudding, yoghurt, milk shakes made with bananas and milk, Avoid acidic foods and fruits, and try some nuts and seeds, such as pumpkin seeds for their calories, vitamins and minerals.
Can porphyria go into remission?
With treatment, most people go into remission, meaning they don’t have symptoms after their skin is exposed to sunlight and their porphyrin levels return to normal. To help people go into and stay in remission, doctors also recommend avoiding or eliminating factors that can cause porphyria cutanea tarda.
What should you do if you think you have porphyria?
More tests may be needed to confirm the type of porphyria you have. Genetic testing and counseling may be recommended in the family of a person with porphyria. Treatment depends on the type of porphyria you have and the severity of symptoms. Treatment includes identifying and avoiding symptom triggers and then relieving symptoms when they occur.
What kind of blood draw is used for porphyria?
Some people with cutaneous porphyria benefit from therapeutic phlebotomy (blood draw). This type of blood draw reduces the amount of iron in the liver. Treatment for acute porphyria involves intravenous (IV) heme or glucose infusions (adding heme or glucose directly into a vein).
Where can I find information about porphyrias consortium?
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research.
Where does heme production occur in porphyria disease?
Heme production, which occurs in the bone marrow and liver, involves eight different enzymes — a shortage (deficiency) of a specific enzyme determines the type of porphyria. In cutaneous porphyria, the porphyrins build up in the skin, and when exposed to sunlight, cause symptoms.