porphyria diagnosis
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Diagnosis of Porphyria measuring
metabolites and correlating with
minimum clinical findings
K.Sorte , K.Palandurkar , A.L.Singh* & A.Basak
Departments of Biochemistry and * DermatologyJawaharlal Nehru Medical College,
Datta Meghe Institute of Medical SciencesUniversity
Wardha-442004
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IntroductionPorphyria are the group of genetic diseases of
heme biosynthesis due to partially deficient enzyme activity.
Glycine + succinylCoA
-ALA Synthase
-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
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Coproporphyrinogen-III
5. Heriditary Coproporphyrinogen-IIIcoproporphyria (HC) oxidase
Protoporphyrinogen-IX
6. Variegate
porphyria (VP) Protoporphyrinogen IX oxidase
Protoporphyrin-IX
Ferrochelatase7. Erythropoetic or
porphyia (EP) Heme synthase
Fe++
Heme
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Aim of this work is to diagnose Porphyria
measuring metabolites and correlating with
minimum clinical findings
Aims and objectives
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Instruments :
1.Spectrophotometer with wavelength scanning mode
2.Centrifuge machine
3.Vortex mixture Sample :
Fresh urine sample is to be protected from light
Matarial and methods
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PBG detection in urine
Hoesch test positive showing
cherry red color at the point
of mixing
Watson-Schwartz test positive
showing lower magenta color
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Absorbtion spectra of PBG showing peak at
553nm and shoulder at 540nm.
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Total porphyrins in urine showing soret band at 405.8 nm
Total urinary porphyrin = A 450 X 2500
(nmol/mol of creatinine ) mol of creatinine/liter of urine
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Results:We have diagnosed 04 cases of porphyria (all were male) on the basis of our
laboratory investigations and minimum clinical findings.
Color ofurine PBGin
Urine
Totalporphyrins
(nmol/mol
of
creatinine)
Neurovisceralsymptoms Cutaneoussymptoms Onset ofepisode Diagnosis
Pink + 86 +++ _ After puberty
AIP
Pink + 72 +++ _ After
puberty
AIP
Pink _ 91.6 _ +++ Sincechildhood
CEP
Pink _ 1695 _ +++ After
puberty
PCT
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Conclusion:
Any Laboratory having
spectrophotometer with wavelength
scanning mode can diagnoseporphyria.
With this work VP and HCP can not
be differentiated.
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Work is in progress for solvent extraction of
different porphyrins from urine, followed by its
quantitation. Then all the different porphyrias
can be diagnosed completely based on
laboratory findings..
Our future aim
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Congenital erythropoetic porphyria
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Porphyria cutanea tarda
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Our research group:
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OurInstitution
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THANKYOU
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