Porphyria Cutanea Tarda Disease
About Gene:
This rare inherited metabolic disorder is a subset of porphyria(group of liver disorder) that is characterized by skin lesions or painful blisters that an individual experiences due to being photosensitive, the causative agent is the lower production of enzyme uroporphyrinogen decarboxylase(UROD) which is required for heme biosynthesis pathway given it is a vital component of hemoglobin and absence or mutation in the UROD gene leads to several liver abnormalities which is the main driving force of this disorder.
Number of Patients: 1
Sign and Symptoms:
- Onycholysis
- Scarring of skin
Diagnosis:
Medical history collection, general examination, routine blood test, urine test
Preventions:
Avoid exposure to sunlight, avoid alcohol consumption, appropriate medication, balanced diet
Treatment:
Phlebotomy or chloroquine therapy