Monday, 24 March 2014

PORPHYRIAS

AIP

Deficiency of hydroxymethyl bilane synthase
Porphobilinogen and - amino-levulinic acid accumulate in the urine
Urine darkens on exposure to light
Patients are not photo sensitive

Erythropoietic porphyria

• Deficiency of ferrochelatase
• Protoporphyria accumulates in erythrocytes, bone marrow and plasma
• Patients are photo sensitive

Varigate Porphyria

• Deficiency of protoporphyrinogen oxidase
• Proto porphyrinogen IX & other intermittent accumulate in the urine
• Patients are photo sensitive

Hereditary Corpro porphyria

• Deficiency of coproporphyrinogen oxidase
• Corproporphyrinogen III
• Patients are photosensitive

Porphyria cutanea Tarda(Commonest)

Deficiency of uroporphyrinogen decorboxylase
Uroporphyrin accumulates in urine
Photo sensitive
Congenital Erythropoietic porphyria

Deficiency of uroporphyrinogen III synthase
Uroporphyrinogen I & Corproporphyrinogen I accumulate in urine
Patients are not photo sensitive
-Erythrodontia-pink teeth
-Gunthers disease

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