Porphyria and its types : Medical biochemistry USMLE step 1

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Porphyria and its types : Medical biochemistry USMLE step 1
Porphyria refers to a disease caused by abnormal biosynthesis of a porphyrin. Heme is one of the most studied porphyrins.
Congenital erythropoietic porphyria is inherited in an autosomal recessive fashion, causing mutations of uroporphyrinogen III synthase (UROS).
The symptoms of congenital erythropoietic porphyria are photosensitivity and anemia.
Erythropoietic protoporphyria is the most common porphyria in children.
Erythropoietic protoporphyria is inherited in an autosomal recessive manner, causing a mutated enzyme ferrochelatase
Patients with erythropoietic protoporphyria suffer from non-blistering photosensitivity and sometimes gallstones.
Acute intermittent porphyria is caused by an autosomal dominant mutation in the gene that encodes the enzyme porphobilinogen deaminase, leading to attacks of diffuse pain around the abdomen due to autonomic dysfunction.
Porphyria cutanea tarda is caused by a mutation in the gene encoding for the enzyme uroporphyrinogen decarboxylase, leading to chronic blistering skin lesions with elevated levels of hepatic transaminases.
Hepatitis C is associated with porphyria cutanea tarda.
Variegate porphyria, which used to be called mixed porphyria, is an autosomal dominant disorder due to a mutation for protoporphyrinogen oxidase.
The symptoms of variegate porphyria are blistering photosensitivity and abdominal pain, although they are milder than in acute intermittent porphyria.
All of the porphyrias we have discussed except for erythropoietic protoporphyria have blistering skin lesions.
On histology, the vesicles are subepidermal in location and lead to significant thickening of the superficial dermal vessels.
In porphyrias, IgG deposits and other proteins are seen in these vessel walls under direct immunofluorescence.
In porphyrias, the dermal vessel walls are thickened by glassy deposits of serum proteins.
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[@rawmotiongraphicsart6798]

Thanks for the helpful information, Doctor!

[@JosphineMani]

Thank so much you sir . I understood the topic very well ✨✨👌🏻👌🏻

[@doctorbhanuprakash]

You are most welcome

[@Ungalnaanstalin]

Thank you for your lecture sir

[@doctorbhanuprakash]

So nice of you

[@manojacharyacovers]

Very nice and informative lecture. Respected sir could you please provide me the source of table and the overall reactions?

[@doctorbhanuprakash]

Its from Harper, Uptodate, Access medicine and Marks' Basic Medical Biochemistry: A Clinical Approach

[@hassanraza8888]

Thanks

[@doctorbhanuprakash]

Welcome

[@amolkelkar7231]

Nice information

[@doctorbhanuprakash]

So nice

[@rishiraj2548]

Namaskar

[@hailofhell]

Sir plz tell me treatment or just suggest me any less costly medical where I can dignose myself, my student life is just ruining by this also I am from poor family which can not afford costly medication although I visited dozoen of local hospital in jaunpur uttar pradesg but not cured they just gave medication and not took any blood sample, ur in sample for checking pr not suggested for check up.
My case:- I have blisters on my skin when I go in sunlight after few hour. It is happening all my body where it exposed to sun except my face skin. It cause itching. There is no abdominal pain like you told in many cases. Plz sir reply otherwise it will destroy my study and social life.

[@tomcruise9317]

Xenobiotics sir

[@doctorbhanuprakash]

Will upload