Biomaterial Database

Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda. 1983

G H Elder, and D M Sheppard, and J A Tovey, and A J Urquhart

Immunoreactive uroporphyrinogen decarboxylase was measured by rocket immuno-electrophoresis in haemolysates from 7 unrelated patients with familial porphyria cutanea tarda (PCT), 6 patients with sporadic PCT, and 7 normal subjects. In all patients with familial PCT immunoreactive enzyme protein was decreased (51% of normal), to the same extent as catalytic activity (56% of normal), whereas in sporadic PCT both measurements were normal. These results show that familial PCT is commonly caused by a mutation which does not lead to the production of non-catalytic cross-reactive immunological material. Familial PCT can be distinguished from other types of PCT by a simple immunoelectrophoretic method that does not involve measurement of uroporphyrinogen decarboxylase activity and which is therefore likely to be suitable for routine diagnostic use.

UI	MeSH Term	Description	Entries
D007122	Immunoelectrophoresis	A technique that combines protein electrophoresis and double immunodiffusion. In this procedure proteins are first separated by gel electrophoresis (usually agarose), then made visible by immunodiffusion of specific antibodies. A distinct elliptical precipitin arc results for each protein detectable by the antisera.
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
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
D002262	Carboxy-Lyases	Enzymes that catalyze the addition of a carboxyl group to a compound (carboxylases) or the removal of a carboxyl group from a compound (decarboxylases). EC 4.1.1.	Carboxy-Lyase,Decarboxylase,Decarboxylases,Carboxy Lyase,Carboxy Lyases
D004912	Erythrocytes	Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.	Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012871	Skin Diseases	Diseases involving the DERMIS or EPIDERMIS.	Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease
D014575	Uroporphyrinogen Decarboxylase	An enzyme that catalyzes the decarboxylation of UROPORPHYRINOGEN III to coproporphyrinogen III by the conversion of four acetate groups to four methyl groups. It is the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME. Several forms of cutaneous PORPHYRIAS are results of this enzyme deficiency as in PORPHYRIA CUTANEA TARDA; and HEPATOERYTHROPOIETIC PORPHYRIA.	Uroporphyrinogen Carboxy-Lyase,Uroporphyrinogen III Decarboxylase,Carboxy-Lyase, Uroporphyrinogen,Decarboxylase, Uroporphyrinogen,Decarboxylase, Uroporphyrinogen III,Uroporphyrinogen Carboxy Lyase