9 Questions
What is the main reason for most porphyrias being autosomal dominant?
100% loss of function is lethal to the developing embryo
Why do porphyrins react to UV light and cause skin damage?
They absorb light at 400nm and form oxygen radicals
What type of molecules mimic neurotransmitters and cause severe CNS dysfunction in some porphyrias?
Precursors PBG and d-ALA
What is the consequence of a 100% loss of function of the enzyme in porphyrias?
lethal to the developing embryo
How do porphyrins cause damage to the skin in sun-exposed areas?
by absorbing light at 400nm and forming oxygen radicals
What severe CNS dysfunction is caused by the early precursors PBG and d-ALA in some porphyrias?
mimic neurotransmitters
What is the consequence of a 50% reduction in enzyme activity in most porphyrias?
Development of the disease
Why is a 100% loss of function lethal to the developing embryo in porphyrias?
100% loss of function is lethal to the developing embryo.
How do some porphyrias cause severe CNS dysfunction?
Some porphyrias cause massive build-up of the early precursors PBG and d-ALA, which mimic neurotransmitters.
Explore the reasons behind the development of porphyrias, focusing on the role of enzyme activity reduction and precursor build-up. Learn why a 50% reduction in enzyme activity is sufficient for disease manifestation and the consequences of a 100% loss of function. Understand the harmful effects of reactive porphyrins when exposed to UV light.
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