Biomaterial Database

[Porphyrin diseases with particular emphasis on hereditary]. 1981

A Knapp

During the last 10 years our knowledge concerning the basis defect in porphyrias has increased so that a better genetic family advice. The following basis defects were found: 1. Uroporphyrinogen-III-cosynthetase in porphyria erythropoetica congenita, 2. haem-synthetase in protoporphyria erythropoetica, 3. uroporphyrinogen-1-synthetase in porphyria acuta intermittens, 4. uroporphyrinogen-carboxylase in porphyria cutanea tarda. According to this in porphyria cutanea tarda a genetic defect is supposed, which leads to the disease in connection with the environmental factors. On the basis of the biochemical findings a better understanding of the heredity is possible which is discussed in detail.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011164	Porphyrias	A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.	Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D011166	Porphyrins	A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. The porphyrins, in combination with iron, form the heme component in biologically significant compounds such as hemoglobin and myoglobin.	Porphyrin
D004777	Environment	The external elements and conditions which surround, influence, and affect the life and development of an organism or population.	Environmental Impact,Environmental Impacts,Impact, Environmental,Impacts, Environmental,Environments
D005817	Genetic Counseling	An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.	Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D005826	Genetics, Medical	A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.	Medical Genetics
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D012871	Skin Diseases	Diseases involving the DERMIS or EPIDERMIS.	Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease