The disorders Acute Intermittent Porphyria
Acute intermittent porphyria
Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. It is the most common of the acute porphyrias.
Variegate porphyria
Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the bl…
Aminolevulinic acid dehydratase deficiency porphyria
Aminolevulinic acid dehydratase deficiency porphyria is a neuropsychiatric condition, disease can present during early childhood with acute neurologic symptoms that resemble those encountered in acute intermittent porphyria. The condition is extremely rare, with fewer than 10 cases ever reported.
What is the glucose effect in porphyria?
The Glucose Effect in Acute Porphyrias The disorders Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and ALAD Porphyria (ADP) are treated initially with the administration of carbohydrate/glucose. This therapy has its basis in the ability of glucose to decrease porphyrin biosynthesis in the liver.
What are the goals of treatment for porphyria?
The goals are to prevent acute attacks of Porphyria that may be related to diet, avoid deficiencies of nutrients, and maintain a normal body weight. The following dietary guidelines are recommended:
Are dietary recommendations different for porphyria and diabetes mellitus?
These general nutritional recommendations for acute Porphyrias are very similar to those for diabetes mellitus. Therefore, physicians and dietitians may find that dietary instructions given for a patient with acute Porphyria are not very different from that given for a disease they encounter much more frequently than Porphyria.
What causes hepatic porphyria?
The four acute hepatic porphyrias are due to different enzyme deficiencies (Table 1). The most common of these is Acute Intermittent Porphyria (AIP), but the others can produce the same neurovisceral symptoms. The enzyme deficiency limits the capacity of the liver to increase heme synthesis.
Why glucose is given in treatment of acute intermittent porphyria?
Glucose can diminish excess excretion of heme precursors, which, in turn, can prevent an attack or can hasten recovery from an attack of the acute porphyrias. Therefore, it is suggested that when patients cannot consume carbohydrates due to nausea or vomiting, glucose should be administered intravenously.
Why food rich in carbohydrates is recommended for patients with acute intermittent porphyria?
When the body metabolizes carbohydrates, carbohydrates are broken down into glucose (sugar). Glucose suppresses an enzyme used in heme production. For people with acute porphyria, this helps reduce the amount of heme precursors in the blood. Glucose infusions or ingesting sugars are sometimes used to treat attacks.
What are the treatment options for porphyria?
Acute porphyrias Treatment may include: Injections of hemin, a medication that is a form of heme, to limit the body's production of porphyrins. Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates.
What medications should be avoided with porphyria?
These include, but are not limited to, certain anesthetics, antihistamines, antiepileptics, antihyperglycemics (like those used to treat diabetes), some antibiotics, and some heart medicines. Sex hormone treatments for women, such as implanted or injected contraceptives, can also cause acute porphyria attacks.
Does porphyria cause diabetes?
It would seem that the metabolic defect of porphyria may actually result in the development of diabetes mellitus due to the disturbance of iron and pyrrole metabolism. Our patient is another example of diabetes mellitus developing after the onset of porphyria cutanea tarda.
Why does starvation aggravate porphyria?
The acute Porphyrias are affected by diet because the chemical pathway in the liver that makes heme from porphyrins and other precursor substances registers changes between the fed and fasting states.
How do you reduce porphyrins?
Treatment for acute porphyria involves intravenous (IV) heme or glucose infusions (adding heme or glucose directly into a vein). These therapies decrease the number of porphyrins or porphyrin precursors produced in the liver. Other drugs are under investigation and may be available through clinical trials.
What enzyme causes porphyria?
Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.
What enzyme is increased in acute intermittent porphyria?
Acute intermittent porphyria (AIP; also called Swedish porphyria, pyrroloporphyria, intermittent acute porphyria) is an acute neurovisceral porphyria resulting from a partial deficiency of the heme biosynthetic enzyme porphobilinogen deaminase (PBGD).
What drugs can 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.
Why are barbiturates contraindicated in porphyria?
ALA synthetase is involved in the porphyrin production pathway, and therefore barbiturates are contraindicated in patients with acute intermittent porphyria (AIP) or variegate porphyria because they may precipitate an attack, manifested by severe abdominal pain, nausea, vomiting, psychiatric disorders, and neurologic ...
Which of the following drug is contraindicated in acute porphyria?
Estrogens are unsafe for porphyria cutanea tarda but can be used with caution in the acute porphyrias, especially in low doses or by the transdermal route.