congenital erythropoietic porphyria

porphyria /por·phy·ria/ (por-fēr´e-ah) any of a group of disturbances of porphyrin metabolism characterized by increase in formation and excretion of porphyrins or their precursors.

---

acute intermittent porphyria  (AIP) hereditary hepatic porphyria due to a defect of pyrrole metabolism, with recurrent attacks of abdominal pain, gastrointestinal and neurologic disturbances, and excessive amounts of δ-aminolevulinic acid and porphobilinogen in the urine.

congenital erythropoietic porphyria  (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis.

porphyria cuta´nea tar´da  (PCT) a form characterized by cutaneous sensitivity that causes scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia; it is associated with reduced activity of an enzyme of heme synthesis.

erythropoietic porphyria  that in which excessive formation of porphyrin or its precursors occurs in bone marrow normoblasts, including congenital erythropoietic porphyria and erythropoietic protoporphyria.

hepatic porphyria  that in which the excess formation of porphyrin or its precursors occurs in the liver.

hepatoerythropoietic porphyria  (HEP) a severe form of porphyria cutanea tarda believed to result from a lack of activity of the enzyme catalyzing the conversion of uroporphyrinogen to coproporphyrinogen in the biosynthesis of heme.

variegate porphyria  (VP) a hereditary hepatic porphyria, with chronic skin manifestations, chiefly extreme mechanical fragility of the skin, mainly of areas exposed to sunlight, episodes of abdominal pain, neuropathy, and typically an excess of coproporphyrin and protoporphyrin in bile and feces.

---

congenital erythropoietic porphyria

n. Abbr. CEP

Enhanced porphyrin formation by erythroid cells in bone marrow, leading to severe porphyrinuria, often with hemolytic anemia and persistent cutaneous photosensitivity. Also called Günther's disease.

---

congenital erythropoietic porphyria

Etymology: L, congenitus, born with; Gk, erythros, red, poein, to make, porphyros, purple

a rare autosomal-recessive trait caused by a defect in hemoglobin synthesis in erythrocytes and release of porphyrin from normoblasts in the bone marrow. Symptoms may include mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis.

---

congenital

present at and existing from the time of birth.

---

congenital articular rigidity

see arthrogryposis.

congenital defects

abnormalities of structure or function which are present at birth. They may or may not be inherited. There are a number of diseases, for example the lysosomal storage diseases, which may be inherited or environmental in causation, in which the insult is supplied while the fetus is in utero, but the defect does not become apparent until some time after birth. By definition these are not congenital defects although the animal is born with the metabolic lesion in place. See also individual defects listed by organ or system.

congenital erythropoietic porphyria

see porphyria.

infectious congenital tremor

see congenital tremor syndrome of piglets.

congenital loco

a congenital, inherited disease of domestic chickens characterized by opisthotonos, orthotonos, inability to stand, violent somersaulting. Affected birds die of starvation and dehydration.