.

Porphyrias are metabolic disorders,

resulting from the deficiency of a
specific enzyme in heme
biosynthetic pathway resulting in
accumulation of porphyrins..
These enzyme deficiencies are
inherited as autosomal dominant,
autosomal recessive or X linked traits
except porphyria cutaneous tarda
which is sporadic..

The doctor who first give description

of porphyria was DR BJ STOKVIS

Heme biosynthesis

2h2o

Upg iii synthase

 CLASSIFICATIONS OF PORPHYRIAS
DEPENDS ON THE SITE OF EXCESSIVE
PORPHYRIN PRODUCTION
They may be :Erythropoietic [erythropoietic cells of bone
marrow]
Hepatic [Liver] and
Erythrohepatic[ Liver & bone marrow]
Porphyrias has an incidence of approx 1 in
50,000
It is much more common in SWEDEN. With
an incidence of 1 in 1000
Womens are more commonly affected than

 ERYTHROPOIETIC
Congenital erythropoietic porphyria
.HEPATIC
Acute intermittent porphyria
Herediatery coproporphyria
Variegate porphyria
PCT
ERYTHROHEPATIC
protoporphyria

NAME OF ENZYMES

ASSO PORPHYRIAS

ALA Dehydratase
PGB Deaminase
Uroporphyrinogen
synthetase
Uroporphyrinogen
decarboxylase
Coproporphyrinogen
oxidase
Protoporphyrinogen
oxidase

Plumboporphyria
Acute intermittent
porphyria
Congenital erythropoietic
porphyria
PCT
Herediatery
coproporphyria
Variegate porphyria
Erythropoietic
protoporphyria

NEUROPSYCHIATRIC
MANIFESTATIONS
OF
PORPHYRIA

 Neuro psychiatric manifestations

typically occur late in the disease
and these may include
Peripheral
neuropathy[ predominantly motor]
Sensory changes[ eg
hypoesthesia, paresthesia and
painful extrimities]
Craneal nerve dysfunctions and
other cns involvement eg seizures,
dementia, delirium And coma

Porphyrias Commonly asso with

neuropsychiatric manifestations are
1

In 1945 ROTH proposed that porphyria occurred much

more frequently in patients with severe neurosis or
personality disorders

Psychiatric disturbances are present in 30-70% patients

with AIP

Craneal nerves involvement iii, vii, x

Seizures are seen over 20% cases and status epilepticus

may develop

Emotional disturbance with anxiety, restlessness

and depression may occur

Psychotic features resembles seizophrenia with

persicutory delusion, auditory hallucinations,social
withdrawland catatonia has been described

Clouding of consciousness and confusion may

progress to delirium with hallucination delirium and
disturbed behavior

Severe attack can progress to a predominantly motor

neuropathy with weakness typically beginning in the
proximal muscles , arms and legs

Reflexes are usually diminised ,though external planter

response can occur

Autonomic neuropathy which is responsible for many of

systemic manifestation purpura including vomiting ,
constipation and tachycardia

VICTIM OF PORPHYRIA

VAMPIRES DISEASE
PEOPLE Suffer from porphyria face
symptomps manifested by
mythological vampire..
Skin is sensitive to sunlight
Urine is reddish to purple in color
Gums are shrunken making the
teeth more prominent..

DRACULA

Thank you