PORPHYRIA CUTANEA TARDA, TYPE I (PCT)

Question 1

What is  PORPHYRIA CUTANEA TARDA, TYPE I (PCT)?

Accepted Answer

rare
autosomal dominant, multifactorial?
- type I (MIM 176090), sporadic type (most common)
- type II (MIM 176100), familial type
- type II ?
Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common [Handler NS et al. 2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Porphyria cutanea tarda Typ I; Porphyria cutanea tarda,sporadische

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 176090

Question 4

Which enzymes are involved?

Accepted Answer

uroporphyrinogen decarboxylase

Disease	PORPHYRIA CUTANEA TARDA, TYPE I (PCT)
OMIM	176090 OMIM = Online Mendelian Inheritance of Men
Orphanet	443057
Gene locus
ICD	E80.1
Summary	rare autosomal dominant, multifactorial? - type I (MIM 176090), sporadic type (most common) - type II (MIM 176100), familial type - type II ? Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common [Handler NS et al. 2017]
Laboratory findings	Porphyrins inc (plasma) Porphyrins inc (urine) Porphyrins inc (fecal) Uroporphyrinogen decarboxylase dec (erythrocytes)
Symptoms	cirrhosis or fibrosis of liver diabetes mellitus heart involvement hyperpigmentation hypertrichosis impaired visual acuity liver involvement or dysfunction photophobia or photosensitive defect in light-exposed area skin defects skin, abnormal