Congenital Erythropoietic Porphyria (CEP) is extremely rare and is inherited through an autosomal recessive trait. It is also known as Guenther Porphyria. The deficient enzyme is uroporphyrinogen III cosynthase. As is characteristic of the erythropoietic porphyrias, symptoms usually begin during infancy. CEP is manifested by markedly increased levels of porphyrins in bone marrow, red blood cells, plasma, urine and feces. Porphyrins are also deposited in the teeth and bones.
The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has.
Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types.
The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are those characterized by sudden attacks of pain and other neurological manifestations. These acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same. .
Skin photosensitivity, a symptom of Congenital Erythropoietic Porphyria, may be extreme and lead to blistering, severe scarring and increased hair growth. Bacteria may infect the damaged skin. Facial features and fingers may be lost through this process over time. Red blood cells have a shortened life-span, and anemia often results. Synthesis of heme and hemoglobin, substances important to many body functions that are found in the bone marrow, red blood cells and the liver, is actually increased to compensate for the shortened red blood cell survival.
The symptoms of porphyria generally arise from effects on the nervous system and/or the skin. Sometimes, the effects on the nervous system are not clear, and proper diagnosis is delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas.
Porphyria Cutanea Tarda is the only type of porphyria that can be either acquired or inherited. All other types of porphyria are caused by genetic factors. Environmental factors, such as drugs, chemicals, diet and sun exposure can, depending on the type of porphyria, greatly influence the severity of symptoms.
The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus," meaning purple. Urine from some Porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light.
Congenital Erythropoietic Porphyria (CEP) is a hereditary non-x-linked trait disorder. A faulty conversion of PBG to uroporphyrinogen in the erythroid cells of the bone marrow is the basic inborn metabolic error.
The gene that is responsible for regulating the production of the enzyme Uroporphyringogen III Synthase has been located on the long arm (q) of chromosome 10 (10q25.2-26.3). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. Each chromosome has a short arm designated as "p" and a long arm identified by the letter "q."
Environmental factors that may aggravate the symptoms include drugs, chemicals, diet, and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms.
Because all porphyrias are uncommon, it is very unlikely that more than one type will occur in the same family, or that someone with one type of porphyria will go on to develop another. .
The onset of Congenital Erythropoietic Porphyria is in early infancy and is primarily a rare childhood form of porphyria. It affects males and females in equal numbers.
The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database.
ALA-D Porphyria is a recently-described form of acute porphyria inherited as an autosomal recessive trait. It is apparently extremely rare. There is a deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALA-D) and increased excretion of ALA in the urine of patients with this type of porphyria.
Acute Intermittent Porphyria is a hereditary dominant disorder. A latent form of porphyria, it may possibly be provoked into active disease by the administration of certain drugs, notably barbiturates, sulfonamides, and estrogen compounds.
Porphyria Cutanea Tarda (PCT) can be either an acquired or inherited type of Porphyria. It may become acute due to exposure to chronic alcohol intake, barbiturates or other chemicals, cirrhosis of the liver, or a hepatic tumor. It may also stem from a nutritional disorder.
Hereditary Coproporphyria (HCP) is a latent type of Porphyria similar to Acute Intermittent Porphyria, although usually less severe. This disorder is due to an enzyme deficiency. Some patients may develop skin photosensitivity. Attacks are usually precipitated by exposure to drugs such as barbiturates, tranquilizers, anticonvulsants, and estrogens. Precautions and treatment for acute attacks are as described for AIP.
Variegate Porphyria (VP) is a hereditary type of Porphyria due to an inborn error of metabolism. Precipitating or aggravating factors may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of ethanol, and estrogens.
Erythropoietic Protoporphyria (EPP) is a hereditary type of Porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities. The diagnosis is established by finding increased protoporphyrin in red blood cells, plasma and feces.
Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of porphyria. Recommendations about drugs for certain types of the disorder are based on experience with the porphyria patients in whom attacks have been caused by drugs and by tests in animals. Since many commonly used drugs have not been tested, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in porphyria should be contacted. A list of these institutions may be procurred from the American Porphyria Foundation (see Resources).
Pregnancy is tolerated much better than was formerly believed. Many patients have a few reservations about family planning. For those who do, genetic counseling may be useful.
An orphan drug formerly known as Hemin, now called Panhematin (hemin for injection) is approved for use as a treatment for various forms of porphyria and is administered intravenously. It is extremely potent, and its use typically follows a period of glucose therapy that has not produced the desired results. For information, contact the sponsor:
Ovation Pharmaceuticals, Inc. Four Parkway North Deerfield, IL 60015
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
ONLINE MENDELIAN INHERITANCE IN MAN (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 7/28/96, Entry Number 263700.
ADULT-ONSET CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHER'S DISEASE) PRESENTING WITH THROMBOCYTOPENIA. A. Murphy et al.; J. Royal Soc Med (1995; 88). Pp. 357P-358P.
CONGENITAL ERYTHROPOIETIC PORPHYRIA: IDENTIFICATION AND EXPRESSION OF 10 MUTATIONS IN THE UROPORPHYRINOGEN III SYNTHASE GENE. W. Xu et al.; J. Clin. Invest. (1995). Pp. 905-12.
American Porphyria Foundation brochure, "Common Questions About Porphyria."
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: +44 870 7700 325 Fax: +44 870 7700 327 Email: info@climb.org.uk Internet: http://www.CLIMB.org.uk
American Porphyria Foundation 4900 Woodway Suite 780 Houston, TX 77056 Tel: (713)266-9617 Fax: (713)840-9552 Email: porphyrus@aol.com Internet: http://www.porphyriafoundation.com
NIH/National Digestive Diseases Information Clearinghouse 2 Information Way Bethesda, MD 20892-3570 Tel: (301)654-3810 Fax: (301)907-8906 Tel: (800)891-5389 Email: nddic@info.niddk.nih.gov Internet: http://www.niddk.nih.gov
Canadian Association for Porphyria P.O. Box 1206 Neepawa Manitoba, Intl ROJ 1HO Canada Tel: (204)476-2800 Fax: (204)476-2801 Internet: http://www.cpf-inc.ca/
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: mums@netnet.net Internet: http://www.netnet.net/mums/
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)519-3194 Fax: (240)632-9164 Tel: (888)205-2311 TDD: (888)205-3223 Email: gardinfo@nih.gov Internet: http://www.genome.gov/10000409
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