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K.Sorte , K.Palandurkar , A.L.Singh* & A.Basak


Departments of Biochemistry and * Dermatology
Jawaharlal Nehru Medical College,
Datta Meghe Institute of Medical Sciences
University
Wardha-442004
þ 
Porphyria are the group of genetic diseases of
heme biosynthesis due to partially deficient enzyme activity.
Glycine + succinylCoA

į-ALA Synthase
į-Aminolaevulinic acid

1.Hypochromic anaemia ALA dehydrase(PBG synthase)


Porphobilinogen(PBG)
2. Acute intermittent
porphyria (AIP) PBG deaminase
Hydroxymethylbilane Uroporphyrinogen-I

3. Congenital erythropoetic Uroporphyrinogen-III Uroporphyringen-I


porphyria(CEP) synthase decarboxylase
Uroporphyrinogen-III

4. Porphyria cutanea Uroporphyrinogen-III Coproporphyrinogen-I


tarda (PCT ) decarboxylase
Coproporphyrinogen-III
Coproporphyrinogen-III

5. Heriditary Coproporphyrinogen-III
coproporphyria (HC) oxidase
Protoporphyrinogen-IX
6. Variegate
porphyria (VP) Protoporphyrinogen ± IX oxidase

Protoporphyrin-IX
Ferrochelatase
7. Erythropoetic or
porphyia (EP) Heme synthase
ĸFe++
Heme


 

Aim of this work is to diagnose Porphyria


measuring metabolites and correlating with
minimum clinical findings
ð   


¬ þ  
1.Spectrophotometer with wavelength scanning mode
2.Centrifuge machine
3.Vortex mixture
¬ 

¬ Fresh urine sample is to be protected from light
   

 
       
  
     
      
  
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!!"   !#$ .
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     #$!%&

Total urinary porphyrin =  450 '!$$


¬ (nmol/µmol of creatinine ) µmol of creatinine/liter of urine
  Ã
We have diagnosed 04 cases of porphyria (all were male) on the basis of our
laboratory investigations and minimum clinical findings.
¢   
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 !" # $ AIP


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(    
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¢   
Any Laboratory having
spectrophotometer with wavelength
scanning mode can diagnose
porphyria.
With this work VP and HCP can not
be differentiated.
U


   
    
  

   0  
2  %Ë    


 
 
  
.  %
Congenital erythropoetic porphyria
Porphyria cutanea tarda
U     

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