PROTOPORPHYRIA, ERYTHROPOIETIC (EPP)

Question 1

What is  PROTOPORPHYRIA, ERYTHROPOIETIC (EPP)?

Accepted Answer

rare

autosomal recessive

pathogenic variants in the ferrochelatase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Erythropoetische Protoporphyrie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 177000

Question 4

Which enzymes are involved?

Accepted Answer

Ferrochelatase, mitochondrial

Disease	PROTOPORPHYRIA, ERYTHROPOIETIC (EPP)
Synonym	FERROCHELATASE DEFICIENCY
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 autosomal recessive pathogenic variants in the ferrochelatase gene
Laboratory findings	Coproporphyrin I normal/inc (urine) Ferritin normal/dec (serum) Iron normal/dec (serum) Protoporphyrin inc (erythrocytes) Triglycerides normal/inc (serum)
Symptoms	anemia cholestasis dermatitis edema erythema gallstones, cholelithiasis liver failure liver involvement or dysfunction onset, childhood onset, infancy osteoporosis pain, skin photophobia or photosensitive defect in light-exposed area