What is Porphyrias?
Porphyrias, Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; and Erythropoietic protoporphyria.
Acute porphyrias cause intermittent attacks of abdominal, mental, and neurologic symptoms.
Porphyrias: The porphyrias are disorders of specific enzymes that are needed for the metabolism of heme (part of the pigment hemoglobin that permits red blood cells to transport oxygen and carbon dioxide).
Acute porphyrias - the condition mostly affects the nervous system. The skin is occasionally affected.
Acute porphyrias
Symptoms of acute porphyria can vary. The most common symptom is a severe abdominal (tummy) pain. The nervous system is also commonly affected to cause symptoms such as muscle weakness and numbness in parts of the body.
Acute porphyrias
Treatment of acute porphyrias focuses on eliminating symptoms. This may require hospitalization in severe cases. Treatment may include: ...
Porphyrias are a group of disorders caused by abnormalities in the synthesis of heme, the oxygen-carrying molecule of blood. This results in the overproduction of a toxic intermediate, porphyrin.
Porphyrias are a group of rare disorders passed down through families, in which an important part of hemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.
Alternative Names ...
Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types.
The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body.
Most porphyrias are inherited. But the most common type, porphyria cutanea tarda (PCT), usually is acquired, most often when people develop liver disease. In the U.S., acute intermittent porphyria is the most common type of acute porphyria.
Most types of porphyrias are inherited through genes. They may be passed on by one or both parents.
Risk Factors
Factors that may increase you chance of porphyria: ...
Definition The porphyrias are a group of rare disorders that affect heme biosynthesis. Heme is an essential component of hemoglobin as well as of many enzymes throughout the body.
Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review. PubMed citation
Podvinec M, Handschin C, Looser R, Meyer UA. Identification of the xenosensors regulating human 5-aminolevulinate synthase. Proc Natl Acad Sci U S A.
Acute Intermittent Porphyria (AIP) is probably the most common of the genetic porphyrias. The highest incidence occurs in Lapland, Scandinavia, and the United Kingdom, although it has been reported in other population groups.
Alcohol, Data Analyses, Design, Program, Disease, Laryngeal, Dysarticulation Disorders, EAA Agents, Ependymoma, Erythema, Erythropoietic Protoporphyrias, Generalized Spasms, Gutta-Percha, Headaches, Chronic Daily, Hemorrhage, Cerebral Brain, ...
This test is used to diagnose porphyrias, a group of rare disorders often passed down through family members.
It may also be used along with other tests to diagnose lead poisoning and certain nervous system and skin disorders.
Porphyrias are classified by where in the body the excess porphyrins are made. They include:
erythropoietic, with extra production in the bone marrow
hepatic, with extra production in the liver ...
Certain diseases and conditions pose a higher risk of sunburn (for example, albinism, lupus, porphyrias, vitiligo, and xeroderma pigmentosum).
Some medications may increase sensitivity to sunburn (photosensitivity).
Other studies must rule out connective tissue disease, such as lupus erythematosus and porphyrias.
Treatment ...
The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blood cells, the diagnosis of AIP is established.
FEP is related to microcytic anemia because both conditions are caused by deficiency of iron. You are likely to see microcytic anemia in patient with FEP. Patient with FEP will have same clinical findings as other porphyrias such as rash on skin, ...
Cutaneous Porphyrias see Porphyria
Cutis Hyperelastica see Ehlers-Danlos syndrome
Cutis Laxa
Cutis Marmorata Telangiectasia Congenita syndrome see M-CMTC syndrome
CVID see Primary Immunodeficiencies
CVS see Cyclical Vomiting ...
 See also: Porphyria, Symptom, Deficiency, Cancer, Acute intermittent porphyria
  
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