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. Porphyrias are metabolic disorders,resulting from the deciency of a
specic enzyme in hemebiosynthetic pathway resulting inaccumulation of porphyrins..
These enzyme deciencies areinherited as autosomal dominant,
autosomal recessive or X linked traitsexcept porphyria cutaneous tardawhich is sporadic..
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)eme biosynthesis
*pg iii synthase
+h+o
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CLASSIFICATIONS OF PORPHYRIASDEPENDS ON THE SITE OF EXCESSIVEPORPHYRIN PRODUCTION
They may be :-
rythropoietic -erythropoietic cells of bonemarrow
)epatic -/iver andrythrohepatic- /iver 0 bone marrow
Porphyrias has an incidence of approx 1 in23,333
(t is much more common in $45. 4ithan incidence of 1 in 1333
4omens are more commonly a6ected than
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ERYTHROPOIETIC
7ongenital erythropoietic porphyria
.HEPATIC
8cute intermittent porphyria
)erediatery coproporphyria
'ariegate porphyria
P7T
ERYTHROHEPATICprotoporphyria
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NAME OF ENZYMES
8/8 ehydratase
P9" eaminase
*roporphyrinogensynthetase
*roporphyrinogendecarboxylase
7oproporphyrinogenoxidase
Protoporphyrinogenoxidase
ASSO PORPHYRIAS
Plumboporphyria
8cute intermittent
porphyria 7ongenital erythropoietic
porphyria
P7T
)erediaterycoproporphyria
'ariegate porphyria
rythropoieticprotoporphyria
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5*!%P$:7)(8T!(7;85(
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5euro psychiatric manifestations
typically occur late in the diseaseand these may include
Peripheral
neuropathy- predominantly motor $ensory changes- eg
hy!e"#he"$a, a%e"#he"$aand
a$&'()e*#%$m$#$e" 7raneal nerve dysfunctions and
other cns involvement eg "e$+(%e",,eme$a, ,e)$%$(m A&, !ma
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Porphyrias 7ommonly asso withneuropsychiatric manifestations are
1
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Psychiatric disturbances are present in =3>?3@ patientswith 8(P
(n 1AB2 !%T) proposed that porphyria occurred much
more freCuently in patients with severe neurosis orpersonality disorders
7raneal nerves involvementD iii, vii, x
$eizures are seen over +3@ cases and status epilepticusmay develop
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motional disturbance with anxiety, restlessnessand depression may occur
Psychotic features resembles seizophrenia withpersicutory delusion, auditory hallucinations,social
withdrawland catatonia has been described
7louding of consciousness and confusion mayprogress to delirium with hallucination delirium and
disturbed behavior
$evere attack can progress to a predominantly motorneuropathy with weakness typically beginning in the
proximal muscles , arms and legs
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!eEexes are usually diminised ,though external planterresponse can occur
8utonomic neuropathy which is responsible for many ofsystemic manifestation purpura including vomiting ,
constipation and tachycardia
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'(7T(; %< P%!P):!(8
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'8;P(!F$ ($8$
P%P/ $u6er from porphyria facesymptomps manifested bymythological vampireG..
$kin is sensitive to sunlight
*rine is reddish to purple in color
9ums are shrunken making theteeth more prominent..
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Th
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