ERYTHROPOIETIC PROTOPORHYRIA

Question 1

What is  ERYTHROPOIETIC PROTOPORHYRIA?

Accepted Answer

rare (1:75.000-1:200.000)
autosomal recessive
painful photosensitivity upon first exposure to sunlight

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Erythropoetische Protoporphyrie (EPP)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 177000

Question 4

Which enzymes are involved?

Accepted Answer

Ferrochelatase, mitochondrial

Disease	ERYTHROPOIETIC PROTOPORHYRIA
Synonym	PROTOPORHYRIA, ERYTHROPOIETIC; PORPHYRIA, PROTOPORHYRIA
OMIM	177000 OMIM = Online Mendelian Inheritance of Men
Orphanet	79278
Protein (UniProt)	Ferrochelatase, mitochondrial
ExPASy	4.99.1.1
Gene locus	18q21.31 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Ferrochelatase
ICD	E80.0
Summary	rare (1:75.000-1:200.000) autosomal recessive painful photosensitivity upon first exposure to sunlight
Laboratory findings	Ferritin normal/dec (serum) Iron normal/dec (serum) Porphyrins inc (erythrocytes) Porphyrins inc (plasma) Porphyrins inc (fecal)
Symptoms	anemia dermatitis edema gallstones, cholelithiasis liver failure onset, childhood photophobia or photosensitive defect in light-exposed area