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AIP PORPHYRIA SUB-TYPES
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AIP Type I
AIP Type II
CRIM Positive
CRIM Negative

PORPHYRIA FACTS:

AIP SUB-TYPES

Not all AIP porphyria patients have the same type of AIP.

SOURCE:
Rober5 Johnson MD
Internal Medicine
++++++++++

At least 27 mutations have been isolated so far in the PBG deaminase gene
(AIP)

SOURCE:
Genetic Defect
Gu, X., et al.
Human Genetics
1994; 93:47-52
+++++++++++

The commonest type of AIP, is the CRM-negative form.

SOURCE:
Genetic heterogeneity of the porphobilinogen
deaminase gene in Swedish families with
acute intermittent porphyria.
Lee, J.
Human Genetics
87: 484-488, 1991.
+++++++++++++



AIP Type I can be diagnosed in either the acute state or latent state by
quantitation of d-ALA dehydratase and PBG deaminase (uroporphyrinogen
I synthase) activities in erythrocytes.

SOURCE:
Porphyria Resources
United Medical Services
1996
+++++++++


Patients with acute intermittent porphyria can be subdivided into three groups,
according to the porphobilinogen deaminase activity in their erythrocytes.

SOURCE:
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte
porphobilinogen deaminase activity in Germany.
Gross U, Honcamp M, Doss MO.
Abteilung fur Klinische Biochemie
Klinikum der Philipps-Universitat Marburg
Deutschland.
European Journal of Clinical Chemistry & Clinical Biochemistry. 1996
Aug;34(8):613-8.
+++++++++++

Acute Intermittent Porphyria (AIP) is familial.

SOURCE:
Acute Intermittent Porphyria
Medicore Ltd.
1996
++++++++++

In classic AIP, both the housekeeping and the erythroid-specific isoforms of the
enzyme have half-normal activities in erythroid and nonerythroid tissues.

In the variant form of the disease, representing 2 to 5% of cases, the
housekeeping enzyme has half normal activity while the erythroid-specific PBGD
isozyme has normal activity.

Clinical characteristics in the 2 forms are identical; diagnostic methods based on
the level of enzyme in erythrocytes is ineffective.

SOURCE:
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in
the non-erythroid variant form of acute intermittent porphyria.
Puy, H. et. al.
Human Genetics
103: 570-575,
1998.
+++++++++++


Due to the AIP defect only 50% of the normal enzyme quantity is produced in
most AIP patients.


SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
+++++++++++


Erythrocyte PBGD activity is decreased in only 84% of AIP patients.

AIP patients with results within the reference interval. are mainly in the variant
form of AIP.

SOURCE:
Molecular and biochemical studies of acute
intermittent porphyria
Kauppinen R, et. al.
Department of Medicine,
Division of Endocrinology,
University Hospital of Helsinki,Finland.
Clinical Chemistry
2002 Nov;48(11):1891-900
+++++++++++

CRIM -Positive AIP (Type III) is characyterized by decreased PBG deaminase
activity.

SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
++++++++++++

CRIM Negative AIP (Type I) is a subtype of AIP.

SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
++++++++++++

AIP Type II is without erythrocyte PBG Deaminase deficiency.

APproximately 14% of all AIP patients carry this subtype.

OURCE:

The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
+++++++++++++

The activity of PBG deaminase is half normal, both in acute and latent cases in
all but 14% of AIP patients, those with a subtype. (AIP Type II.)

SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++++++



Acute intermittent porphyria urine studies will often show variants do to drugs
such as barbiturates, sulfonamides, and griseofulvin which also may precipitate
acute episodes.

SOURCE:
Anderson KE, Bloomer JR,
Bolwell B, Lichtin AE.
Department of Dermatology,
Columbia University College of
Physicians and Surgeons, New
York, New York, USA
+++++++++++

A child who was grossly malnourished and who showed increased excretion
of porphyrin and porphyrin precursor had normal activity of erythrocyte
porphobilinogen deaminase and leukocyte protoporphyrinogen
oxidase.

SOURCE:
Variant acute intermittent porphyria in a child.
Badcock, N. R., G. D. Zoanetti, et al.
Clinical Chemistry 1990;
36(5): 812-4.
+++++++++++

There is a High frequency of mutations in exon 10 of the porphobilinogen
deaminase gene in patients with a CRIM-positive subtype of acute intermittent
porphyria.

SOURCE:
CRIM Positive Subtype AIP
Grandchamp B et. al.
Am J Hum Genet.
1992 Sep;51(3):660-5.
++++++++++

Acute intermittent porphyria (AIP) is an autosomal dominant disease
characterized by a partial deficiency of porphobilinogen (PBG) deaminase.

SOURCE:
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene
in patients with a CRIM-positive subtype of acute intermittent porphyria.
Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B.
Laboratory of Molecular Genetics
Faculte X. Bichat
Paris, France.
Am J Hum Genetics
1992 Sep;51(3):660-5.
+++++++++++++

CRIM -Positive AIP (Type III) is characyterized by decreased PBG deaminase
activity.

SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
++++++++++++


Different subtypes of AIP have been defined.

SOURCE:
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene
in patients with a CRIM-positive subtype of acute intermittent porphyria.
Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B.
Laboratory of Molecular Genetics
Faculte X. Bichat
Paris, France.
Am J Hum Genetics
1992 Sep;51(3):660-5.
+++++++++++++

Several forms of mutations have been identified in AIP.

SOURCE:
RObert Johnson MD
Internal Medicine
+++++++++++++

More than 10 different mutations have been described in AIP.

SOURCE:
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene
in patients with a CRIM-positive subtype of acute intermittent porphyria.
Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B.
Laboratory of Molecular Genetics
Faculte X. Bichat
Paris, France.
Am J Hum Genetics
1992 Sep;51(3):660-5.
+++++++++++++

Many mutations have been isolated and identified in AIP.

SOURCE:
Gregory Neisman PhD
Biochemistry
+++++++++++++


A study on exon 10 of AIP, previously found that three different mutations were
located in this exon and two which seemed to be relatively common.

SOURCE:
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene
in patients with a CRIM-positive subtype of acute intermittent porphyria.
Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B.
Laboratory of Molecular Genetics
Faculte X. Bichat
Paris, France.
Am J Hum Genetics
1992 Sep;51(3):660-5.
+++++++++++++

Some AIP subtypes are more common that others, but are few in comparison to
the overall AIP Type I mutation.

:
SOURCE:
Gregory Neisman PhD
Biochemistry
+++++++++++

Denaturing gradient gel electrophoresis (DGGE) has been used follwing in vitro
amplification to detect all possible mutations in exon 10 in 41 unrelated AIP
patients.

SOURCE:
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene
in patients with a CRIM-positive subtype of acute intermittent porphyria.
Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B.
Laboratory of Molecular Genetics
Faculte X. Bichat
Paris, France.
Am J Hum Genetics
1992 Sep;51(3):660-5.
+++++++++++++


Mutations have been found in AIP patients with cross-reacting immunological
material (CRIM)-positive forms of AIP.

SOURCE:
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene
in patients with a CRIM-positive subtype of acute intermittent porphyria.
Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B.
Laboratory of Molecular Genetics
Faculte X. Bichat
Paris, France.
Am J Hum Genetics
1992 Sep;51(3):660-5.
+++++++++++++

There is a DNA abnormality in the CRIM-positive subtype of AIP.

SOURCE:
Gregory Neisman PhD
Biochemistry
++++++++++

The high frequency of these CRIM-positive AIPmutations make DGGE analysis
of exon 10 a useful approach allowing the direct direction of the DNA
abnormality in most of the families with the CRIM-positive subtype of AIP.

SOURCE:
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene
in patients with a CRIM-positive subtype of acute intermittent porphyria.
Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B.
Laboratory of Molecular Genetics
Faculte X. Bichat
Paris, France.
Am J Hum Genetics
1992 Sep;51(3):660-5.
+++++++++++++

Not all AIP porphyria patients will have a diminished PBG-D in their blood serum
testing.

These AIP patients have a sub-type of AIP.

SOURCE:

Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of
steroid hormones to clinical expression of the genetic defect in acute intermittent
porphyria.
Anderson KE, Bradlow HL, Sassa S, Kappas A.
American Journal of Medicine
1979 Apr;66(4):644-50.
+++++++++++++

Various mutations have been identified in AIP.

Some are sub-types of AIP.


SOURCE:
Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of
steroid hormones to clinical expression of the genetic defect in acute intermittent
porphyria.
Anderson KE, Bradlow HL, Sassa S, Kappas A.
American Journal of Medicine
1979 Apr;66(4):644-50.
+++++++++++++

Of acute intermittent porphyria patients 14% a subtype of AIP with 5-6% having
normal porphobilinogen deaminase activity.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++

Of acute intermittent porphyria patients 5% have normal porphobilinogen
deaminase activity.

SOURCE:
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte
porphobilinogen deaminase activity in Germany.
Gross U, Honcamp M, Doss MO.
Abteilung fur Klinische Biochemie
Klinikum der Philipps-Universitat Marburg
Deutschland.
European Journal of Clinical Chemistry & Clinical Biochemistry. 1996
Aug;34(8):613-8.
+++++++++++

Patients with AIP can be subdivided into three different groups concerning their
PBGD activity in erythrocytes.

The first of which has lowered, the second overlapping and the third normal
PBGD activity.

SOURCE:
Heme precursors and porphobilinogen deaminase in erythrocytes and
lymphocytes of patients with acute intermittent porphyria.
Gross U, Jacob K, Frank M, Doss MO.
Abteilung fur Klinische Biochemie
Philipps-Universitat
Marburg, Germany.
Cell Mol Biol (Noisy-le-grand).
1997 Feb;43(1):29-35.
++++++++++

AIP is caused by a defect in porphobilinogen deaminase activity.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
++++++++++++
CRIM Negative AIP (Type I) is a subtype of AIP.

SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
++++++++++

AIP TYpe II is without erythrocyte PBG Deaminase deficiency.

SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
+++++++++++++

AIP Type I can be diagnosed in either the acute state or latent state by
quantitation of d-ALA dehydratase and PBG deaminase (uroporphyrinogen I
synthase) activities in erythrocytes.

SOURCE:
Porphyria Resources
United Medical Services
1996
++++++++++

Patients with acute intermittent porphyria (AIP) can be subdivided into three
groups, according to the porphobilinogen deaminase activity in their
erythrocytes.

SOURCE:
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte
porphobilinogen deaminase activity
Gross U, Honcamp M, Doss MO.
Abteilung fur Klinische Biochemie
Klinikum der Philipps-University
Marburg, Germany
European ournal of Clinical Chemistry & Clinical Biochemistry
1996 Aug;34(8):613-8
++++++++++

AIP is caused by a genetic defect in chromosome 11, where one of two genes
for porphobilinogen deaminase is defective.

SOURCE:
AACN Clinical Issues
Critical Care Nursing
1994 Feb;5(1):36-41
Caring for patients with acute intermittent porphyria.
Shively BD, et.aL.
++++++++++++++


The symptoms of porphyria still cannot be completely explained by our present
understanding of the biochemical defects of porphyria.

In all cases there is an identifiable abnormality of the enzymes. Medical science
as we enter the millenium can still not explain the neurological symptoms
experienced in porphyria.

Such are especially puzzling since the metabolic defect is confined to
non-neural tissue, and no known diffusible intermediate can cause the observed
neurological symptoms."

SOURCE:
Understanding Porphyria Symptomology as we Enter the Millenium
Presentation Paper
M. Tokomyko MD
International Congress on Porphyria
Paris, France
July 1999
++++++++++++++++

Since 1966 all known Finnish AIP patients and their families have been studied.

SOURCE:
Molecular and biochemical studies of acute intermittent porphyria in 196 patients
and their families.
Kauppinen R, Von Und Zu Fraunberg M.
Department of Medicine
Division of Endocrinology
University Hospital of Helsinki
Helsinki, Finland.
Clinical Chemistry
2002 Nov;48(11):1891-900
+++++++++

As in most other populations AIP mutations are highly heterogeneous both in
their type and location.

Furthermore, almost all mutations are family specific.

SOURCE:
Molecular genetics of acute intermittent porphyria in Finland
Sami Mustajoki
Division of Endocrinology,
Department of Medicine,
University of Helsinki &
Department of Human Molecular Genetics,
National Public Health Institute, Finland
++++++++++++++

In persons genetically susceptible acute intermittent porphyria (AIP), PBG
deaminase levels are approximately half of usual values except in about 14% of
patients with the rarer subtypes of AIP.

Normal levels of erythrocyte PBG deaminase can be found in rare abnormal
forms of hepatic PBG deaminase.

SOURCE:
Nuttall KL. Porphyrins and disorders of porphyrin metabolism.
Tietz textbook of clinical chemistry,
2d ed. 1994;
Philadelphia: W.B. Saunders Co.,
2073-2106.
+++++++++++


AIP Type II is without erythrocyte PBG Deaminase deficiency.

APproximately 14% of all AIP patients carry this subtype.

SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
+++++++++++

The activity of PBG deaminase is half normal, both in acute and latent cases in
all but 14% of AIP patients, those with a subtype. (AIP Type II.)

SOURCE:

The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++++++


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