e-book Disorders of Porphyrin Metabolism

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All studies receiving U. Information about current research on porphyria also is available from the American Porphyria Foundation. See contact information and web site in the Resources section of this report. Recombinant human porphobilinogen deaminase rhPBGD or Porphozom was granted orphan drug designation on September 9, , for the treatment of acute intermittent porphyria attacks. This drug is being developed by Zymenex, formerly known as HemeBiotech, a Scandinavian biotechnology company.

Patients are being recruited August for a study to help determine the safety and effectiveness of Porphozom for treatment of acute attacks. The study is being conducted by Dr.


Karl Anderson at the University of Texas in Galveston. Several other products have been granted orphan drug designation by the FDA for the investigational treatment of the porphyrias.

A clinical trial, cosponsored by the National Center for Research Resources and the University of Texas Medical Branch in Galveston, is currently recruiting up to 25 patients. The trial is designed to characterize enzyme defects in patients with known or suspected porphyria and in their family members. RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease.

Rare Disease Database

Anderson KE. Philadelphia, PA. Mathews-Roth MM. Erythropoietic Porphyria. Disorders of Heme Synthesis. McGraw-Hill Companies. New York, NY; Beers MH, Berkow R. The Merck Manual, 17th ed. Berkow R, ed. The Merck Manual-Home Edition. Textbook of Child Neurology. Baltimore, MD; Foran SE, Abel G.

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Guide to the porphyrias. A historical and clinical perspective. Am J Clin Pathol.

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Diagnosis and treatment of the hepatic porphyrias. Dermatol Ther. Murphy GM. Diagnosis and management of the erythropoietic porphyrias. Pregnancy with acute intermittent porphyria: a case report and review of the literature. J Obstet Gynaecol Res.

ICDCM Diagnosis Code E Unspecified porphyria

Management of acute and cutaneous porphyrias. Int J Clin Pract. Hemochromatosis and porphyria. Semin Gastrointest Dis. Late-onset porphyrias: what are they? Cell Mol Biol Noisy-le-grand. J Clin Pathol. Treatment of congenital erythropoietic porphyria in children by allogenic stem cell transplantation: a case report and review of the literature.

Bone Marrow Transplant. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. About News Events Contact. General Discussion Porphyria is a group of at least eight metabolic disorders that arise as a result of a malfunction in one of the eight steps in the body's synthesis of a complex molecule called heme.

Heme is essential for the transport of oxygen to cells in the body. If any step in the synthesis of heme is blocked, an intermediate chemical accumulates in the cell, resulting in oxygen depletion. Those intermediate chemicals, known as porphyrins or porphyrin precursors, are the substances of which heme is composed. There are two general categories of porphyrias, those that affect the skin and those that affect the nervous system.

The former are called cutaneous porphyrias. Request an Appointment at Mayo Clinic. Autosomal dominant inheritance pattern In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes autosomes. Autosomal recessive inheritance pattern To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent.

Share on: Facebook Twitter. References National Library of Medicine. Genetics Home Reference. Accessed Feb. Learning about porphyria. National Human Genome Research Institute. Overview of porphyrias.

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The Porphyrias Consortium. Anderson KE. Porphyrias: An overview. Stein PE, et al.

About Porphyria

Update review of the acute porphyrias. British Journal of Haematology.

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Tracy JA, et al. Porphyria and its neurologic manifestations. Handbook of Clinical Neurology. Horner ME, et al.