Porphyrias

Presented By :-
Aman Soni (16)
Amit Ghirwani (17)
Amitesh Kushwaha (18)
Ananya tripathi (19)
Anjali Arya (20)
 These are the metabolic disorders of heme synthesis
In which increased excretion of porphyrin precursors
takes place
LIVER Erthyocytes
producung cell

HEME
Porphyrias are classified as :-
● Inherited

● Aquired
 It is also classified in:-
● Hepatic
● Erythropoietic
 Aquired porphyrias
It occurs dew to Toxicity of Compound

● Heavy metal (lead)

● Toxic compounds (Hexachlorobenzene)

● Drugs which inhibits emzymes - ALA dehydratase

Ferrochelatase
Uroporphyrine I
Hepatic porphyrias
● Acute intermittent porphyria
● Porphyria cutanea tarda
● Hereditary copro porphyria
● Varigate porphyria
Acute intermittent porphyrias

Deficiency : uroprophyrinogen 1 synthase

Increased excretion of prophobilinogen and del-aminolevulinate

Urine gets darkend on exposure to air

Abdominal pain

Vomiting

Neurophychiatic disturbance

Increased P450 increase ALA synthase , which in turn increase more

symptoms
Porphyrin cutanea tarda
Also known as cutaneous hepatic porphyria

Most common in patient with liver damage in alcohol Overcomsuption or Iron Overload

Deficiency : Uroporphobilinogen Decarboxylase

Increased excretion of uroporphyrins I and III

Cutaneous Photosensitivity

Liver exhibits floroscence

High accumulation of porphyrins

Hereditary Coproporphyris
Deficiency :- Copro porphyrinogen oxidase

Increased excretion of Coproporphyrinogen III

ALA and PBG
Photosensitive

Clinical menifestation of intermittent porphyrias

Hematin is used to treat it

Varigate porphyria
Deficiency : protoporphyrinogen oxidase

All intermediates - accumulates in the body

Excretes in urine and feces

Photosensitive and coloured urine

Erythropoietic porphyria
● Congenital Erythropoietic porphyria

● Protoporphyria
Congenital Erythropoietic Porphyria
Deficiency:- uroporphyrinogen Cosynthase

Rare

Only Autosomal resessive

Increased excretion of Uroporphyrobilinogen I and crproporphyrobilinogen II

Photosensitive

Increased hemolysis is Observed

Protoporphyria
Deficiency : ferrochelatase

Incresed accumulation of Protoporphyrin IX and excretion

Young RBC and skin biopsy exibit red flourescense

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