[An overview of porphyrias]. / Porphyrien eine Übersicht.
Dermatologie (Heidelb)
; 75(7): 539-547, 2024 Jul.
Article
in De
| MEDLINE
| ID: mdl-38902527
ABSTRACT
Porphyrias are predominantly genetic metabolic disorders caused by dysregulation of specific enzymes in porphyrin-heme biosynthesis. The enzymatic dysfunction leads to formation and excretion of intermediate metabolic products in the form of porphyrins and/or their precursors δaminolevulinic acid and porphobilinogen, which have cyto- and tissue-toxic properties. Clinically, porphyrias are extremely diverse, with symptoms ranging from skin changes on light-exposed areas of the body to potentially life-threatening neurovisceral attacks. Biochemical tests in urine, blood and stool are used for diagnosis, which can be supplemented by molecular genetic analyses. Treatment of the various forms of porphyria is complex and often requires close interdisciplinary cooperation between different medical specialties.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Porphyrias
Limits:
Humans
Language:
De
Journal:
Dermatologie (Heidelb)
Year:
2024
Document type:
Article