Podcast
Questions and Answers
What is the main reason for most porphyrias being autosomal dominant?
What is the main reason for most porphyrias being autosomal dominant?
Why do porphyrins react to UV light and cause skin damage?
Why do porphyrins react to UV light and cause skin damage?
What type of molecules mimic neurotransmitters and cause severe CNS dysfunction in some porphyrias?
What type of molecules mimic neurotransmitters and cause severe CNS dysfunction in some porphyrias?
What is the consequence of a 100% loss of function of the enzyme in porphyrias?
What is the consequence of a 100% loss of function of the enzyme in porphyrias?
Signup and view all the answers
How do porphyrins cause damage to the skin in sun-exposed areas?
How do porphyrins cause damage to the skin in sun-exposed areas?
Signup and view all the answers
What severe CNS dysfunction is caused by the early precursors PBG and d-ALA in some porphyrias?
What severe CNS dysfunction is caused by the early precursors PBG and d-ALA in some porphyrias?
Signup and view all the answers
What is the consequence of a 50% reduction in enzyme activity in most porphyrias?
What is the consequence of a 50% reduction in enzyme activity in most porphyrias?
Signup and view all the answers
Why is a 100% loss of function lethal to the developing embryo in porphyrias?
Why is a 100% loss of function lethal to the developing embryo in porphyrias?
Signup and view all the answers
How do some porphyrias cause severe CNS dysfunction?
How do some porphyrias cause severe CNS dysfunction?
Signup and view all the answers
