PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (XLEPP)

Question 1

What is  PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (XLEPP)?

Accepted Answer

very rare

X-linkes recessive

mutations in the ALAS2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 300752

Question 3

Which enzymes are involved?

Accepted Answer

5-aminolevulinate synthase, erythroid-specific, mitochondrial

Disease	PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (XLEPP)
Synonym	PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT; XLDPP
OMIM	300752 OMIM = Online Mendelian Inheritance of Men
Orphanet	443197
Protein (UniProt)	5-aminolevulinate synthase, erythroid-specific, mitochondrial
ExPASy	2.3.1.37
Gene locus	Xp11.21
ICD	E80.0
Summary	very rare X-linkes recessive mutations in the ALAS2 gene
Laboratory findings	Hemoglobine dec (blood) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	anemia gallstones, cholelithiasis liver involvement or dysfunction no clinical symptoms (probably) onset, childhood pain, skin photophobia or photosensitive defect in light-exposed area