Biomaterial Database

[Erythropoietic protoporphyria]. 1995

T Miura

Department of Dermatology, Teikyo University School of Medicine Ichihara Hospital.

Erythropoietic protoporphyria is an autosomal inherited disease characterized by decreased ferrochelatase activity. This abnormality results in excess protoporphyrin accumulation not only in red blood cells but also in other organs such as skin, and causes various degrees of skin photosensitivity according to degrees of decreased ferrochelatase activity. An excess protoporphyrin accumulation in liver results in severe liver damage which might cause juvenile death in some patients. Clinical views including its diagnosis and treatment are briefly summarized, and possible relationship between skin porphyrin level and skin photosensitivity is discussed.

UI	MeSH Term	Description	Entries
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
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D011524	Protoporphyrins	Porphyrins with four methyl, two vinyl, and two propionic acid side chains attached to the pyrrole rings. Protoporphyrin IX occurs in hemoglobin, myoglobin, and most of the cytochromes.
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D017121	Porphyria, Hepatoerythropoietic	An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.	Hepatoerythropoietic Porphyria,Porphyria, Erythrohepatic,Erythrohepatic Porphyria,Erythrohepatic Porphyrias,Hepatoerythropoietic Porphyrias,Porphyrias, Erythrohepatic,Porphyrias, Hepatoerythropoietic
D046351	Protoporphyria, Erythropoietic	An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.	Erythropoietic Protoporphyria,Erythrohepatic Protoporphyria,Ferrochelatase Deficiency,Heme Synthetase Deficiency,Deficiencies, Ferrochelatase,Deficiencies, Heme Synthetase,Deficiency, Ferrochelatase,Deficiency, Heme Synthetase,Erythropoietic Protoporphyrias,Ferrochelatase Deficiencies,Heme Synthetase Deficiencies,Protoporphyrias, Erythropoietic,Synthetase Deficiencies, Heme,Synthetase Deficiency, Heme