Diagnosis of Porphyria measuring

metabolites and correlating with

minimum clinical findings

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
 Introduction
Porphyria are the group of genetic diseases of
heme biosynthesis due to partially deficient enzyme activity.
Glycine + succinylCoA

δ-ALA Synthase
δ-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

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
←Fe++
Heme
 Aims and objectives

Aim of this work is to diagnose Porphyria

measuring metabolites and correlating with
minimum clinical findings
 Matarial and methods
• Instruments :
1.Spectrophotometer with wavelength scanning mode
2.Centrifuge machine
3.Vortex mixture
• Sample :
• Fresh urine sample is to be protected from light
 PBG detection in urine

Hoesch test positive showing Watson-Schwartz test positive

cherry red color at the point showing lower magenta color
of mixing
–
Absorbtion spectra of PBG showing peak at
553nm and shoulder at 540nm.
Total porphyrins in urine showing soret band at 405.8 nm

• Total urinary porphyrin = A

450 X 2500
(nmol/µmol of creatinine ) µmol of creatinine/liter of urine
Results:
We have diagnosed 04 cases of porphyria (all were male) on the basis of our
laboratory investigations and minimum clinical findings.
Color of PBG Total Neurovisceral Cutaneous Onset of Diagnosi
urine in porphyrins symptoms symptoms episode s
Urine (nmol/µmol
of
creatinine)

Pink + 86 +++ _ After AIP

puberty

Pink + 72 +++ _ After AIP

puberty
Pink _ 91.6 _ +++ Since CEP
childhood

Pink _ 1695 _ +++ After PCT

puberty
 Discussions:
Urine sample

Hoesh Test

Negative Positive

T. porphyrins Watson-
Schwartz test
Negative Positive
≤ 35umol/mmol > 35umol/mmol of
creatinine Not
of creatinine Absorption spectra : Peak
porphyria
at 553nm & at 540nm
Cutaneous
manifestation Severe
Neurovascular photosensivity
neurovisce
manifestation ral
Since After
manifestati
childhood Puberty on
Cutaneous Neurovisceral
manifestation manifestations
CEP PCT
EPP VP,HCP AIP
Conclusion:
Any Laboratory having
spectrophotometer with wavelength
scanning mode can diagnose
porphyria.
With this work VP and HCP can not
be differentiated.
Our future aim
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.
Congenital erythropoetic porphyria
Porphyria cutanea tarda
Our research group:
Our Institution
•THANK
YOU