PORPHYRIA FACTS: TYPES: ALAD -ADP
ALA dehydratase porphyria is the full name for the recessive porphyria(ADP) or
ALA-D.
SOURCE:
Late onset porphyrias: What are they?
Sassa S, et. al.
Biochemical Hematology Lab,
Rockefeller University
New York, NY
Cellular & Molecular Biology
Noisy-le-grand
2002 Feb;48(1):97-101
++++++++++++++++
ADP is another name for Delta-aminolevulinic acid (ALA) dehydratase porphyria.
SOURCE:
ALA DEhydratase Deficiency
Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
++++++++++++++++++
ADP is a form of porphyria is inherited as an autosomal recessive trait and
seems to be extremely rare.
It is better known as ALA-D porphyria.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++++++
The decrease in activity of erythrocyte aminolevulinate dehydratase observed in
diabetic ALA-D hepatic porphyria patients, may represent an additional and
useful parameter for the assessment of the severity of carbohydrate
metabolism impairment."
SOURCE:
Intternational Journal of Biochemistry and Cell Biology
1999
Mar-Apr;31(3-4):479-88
Delta aminolevulinate dehydratase (ALA-D) activity in
human and experimental diabetes mellitus.
Fernandez-Cuartero B et. al.
Department of Internal Medicine
University Complutense of Madrid,
Spain.
+++++++++++++++++
There is a deficiency of the enzyme delta-aminolevulinic acid dehydratase
(ALAD) and increased excretion of delta-aminolevulinic acid (ALA) in the urine.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++++++
Delta-aminolevulinic acid dehydratase is usually noted as ALA-D.
ALA-D is the second enzyme in the porphyrin-heme pathway and converts
delta-aminolevulinc acid (ALA) to porphobilinogen (PBG).
SOURCE:
American Journal of Human Genetics
1979
Nov;31(6):662-8
Inherited deficiency of delta-aminolevulinic acid dehydratase.
Bird TD, et. al.
++++++++++++++++++++++
IAKA-D or ADP results from a homozygous deficiency in the ALA dehydratase
activity.
SOURCE:
ADP Porphyria
Drs. M. Doss, R. von Tiepermann, and J. Lundgren.
Journal of Biochemistry
12:823, 1980
++++++++++++++++++++++
ALA-D causes neurologic symptoms and sometimes anemia.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++++++++
ALA-D symptoms include slight cough with low-grade fever, followed by
bronchopneumonia, vomiting, abdominal pain, facial numbness and paresis of
the extremities with gait disturbance.
Later symptoms can include becoming comatose with hyponatremia.
Laboratory tests can reveal an abnormal antidiuretic hormone (ADH) level.
SOURCE:
Kobe Journal of Medical Science
1995
Apr;41(1-2):23-31
Delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with
syndrome of inappropriate secretion of antidiuretic hormone (SIADH)
++++++++++++++++++++
In a medical journal article it documents ALA-D over three generations in one
family.
SOURCE:
American Journal of Human Genetics
1979
Nov;31(6):662-8
Inherited deficiency of delta-aminolevulinic acid dehydratase.
Bird TD, et. al.
+++++++++++++++++++++
ALA-D has been indicated in three generations of one family, thus confirming
that it is an inherited genetic disease form.
SOURCE:
Robert JOhnson MD
+++++++++++++++++++++
ALA-D families may be at increased risk for the serious consequences of lead
poisoning, which produces marked inhibition of ALA-D activity."
SOURCE:
American Journal of Human Genetics
1979
Nov;31(6):662-8
Inherited deficiency of delta-aminolevulinic acid dehydratase.
Bird TD, et. al.
+++++++++++++++++++++++++++++
There is an abnormal ADH level in ADP patients.
SOURCE:
Muraoka A, et. al.
Department of Internal Medicine
Suma Red Cross Hospital
Kobe, Japan.
++++++++++++++++++++++
Experience with treatment of ADP in treating ALA-D is limited, but may be
approached as for AIP.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++++++++
Heterozygotes in ALA-D are detected by the demonstration
of enzyme activity in the gel."
SOURCE:
Clinical Genetics
1986
Sep;30(3):191-8
ALA-D IN FAMILIES WITH INHERITED ENZYME DEFICIENCY
Doss M et. al.
++++++++++++++++++++++
ALA-D hepatic porphyria results from the markedly deficient activity of the heme
biosynthetic enzyme, delta-aminolevulinate dehydratase (ALA-D)."
SOURCE:
American Journal of Human Genetics
1991
Jul;49(1):167-74
ALA-D porphyria
Desnick RJ.
Division of Medical and Molecular Genetics
Mount Sinai School of Medicine
Manhattan, New York, NY 10029.
+++++++++++++++++++++++++++++++++
" Delta-aminolevulinic acid dehydratase is usually noted as ALA-D.
ALA-D is the second enzyme in the porphyrin-heme pathway and converts
delta-aminolevulinc acid (ALA) to porphobilinogen (PBG)"
SOURCE:
American Journal of Human Genetics
1979
Nov;31(6):662-8
Inherited deficiency of delta-aminolevulinic acid dehydratase.
Bird TD, et. al.
++++++++++++++++++++++++
ADP was first recognized by Doss in 1979.
SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
+++++++++++++++++++++
Dr. Manfred Doss first identified ALA-D porphyria.
SOURCE:
Robert Johnson MD
+++++++++++++++++
The genetic defect of Delta-aminolevulinic acid (ALA) dehydratase porphyria
results in a deficiency in the enzyme ALA dehydratase.
This enzyme converts 2 molecules of ALA into the cyclic
compounporphobilinogen (PBG), which is a precursor of heme.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
+++++++++++++++++
The enzyme ALA synthetase regulates ALA synthesis in Delta-aminolevulinic
acid ALA) dehydratase porphyria.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
+++++++++++++++++++
The decreased enzyme in Delta-aminolevulinic acid (ALA) dehydratase
porphyria activity leads to an accumulation of the intermediate compounds in
the metabolic pathway.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
+++++++++++++++++++++
Due to a lack of the enzyme ALA dehydratase in ALA-D porphyria, ALA cannot
be further processed, and it accumulates in the body.
This accumulated compound is excreted in increased amounts in the urine.
Coproporphyrin III and erythrocyte protoporphyrin IX levels also are increased.
These intermediate compounds accumulate in tissues and lead to neurovisceral
symptoms.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
+++++++++++++++++++++++
ALA-dehydratase deficiency (ALA-D) usually indicate Laboratory abnormalities
which resemble severe lead poisoning.
SOURCE:
Anderson KE, Bloomer JR,
Bolwell B, Lichtin AE.
Department of Dermatology,
Columbia University College of
Physicians and Surgeons, New
York, New York, USA.
++++++++++++++++++++++
In ALA-D there is almost a complete lack of enzyme activity with increased
excretion of ALA but not PBG in the urine. This enzyme is one of the main
enzyme systems affected by chronic lead poisoning.
SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
+++++++++++++++++++++
ALA-D porphyria was first described in Germany but probably occurs in all
countries.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++++++
ALA-D is a Recessive trait.
SOURCE:
The Neuromuscular Disease Center
Washington University School of Medicine
St. Louis, MO.
++++++++++++++++++++
The four homozygotes described to date with the disorder pf ALA-D hepatic
porphyria have remarkably distinct phenotypes.
These phenotypes range from a severely affected infant with failure to thrive to
an essentially asymptomatic 68-year-old male."
SOURCE:
American Journal of Human Genetics
1991
Jul;49(1):167-74
ALA-D porphyria
Desnick RJ.
Division of Medical and Molecular Genetics
Mount Sinai School of Medicine
Manhattan, New York, NY 10029.
++++++++++++++++++++++
ALA-D activity is an autosomal dominant pattern.
SOURCE:
American Journal of Human Genetics
1979
Nov;31(6):662-8
Inherited deficiency of delta-
aminolevulinic acid dehydratase.
Bird TD, et. al.
+++++++++++++++++++++++
ALA Dehydratase-Deficient Porphyria (ALA-D) an autosomal recessive disorder.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
+++++++++++++++++++++
ALA-D is inherited in an autosomal recessive fashion and has been diagnosed
in a very small number of patients whose ages range from infancy
to adulthood.
SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
++++++++++++++++
ADP porphyria is an autosomal recessive disorder.
SOURCE:
ADP Porphyria
Drs. M. Doss, R. von Tiepermann, and J. Lundgren.
Journal of Biochemistry
12:823, 1980
+++++++++++++++++
ALA dehydratase porphyria (ADP) is an autosomal recessive porphyria.
SOURCE:
Late onset porphyrias: What are they?
Sassa S, et. al.
Biochemical Hematology Lab,
Rockefeller University
New York, NY
Cellular & Molecular Biology
Noisy-le-grand
2002 Feb;48(1):97-101
++++++++++++++++++++
Other causes of the ALA-D enzyme deficiency, such as lead poisoning and
tyrosinemia, must be excluded.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
+++++++++++++++++++++
Several different mutations in the gene for ALA dehydratase have been
described in unrelated ALA-D patients.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++++++++
ALA-D hepatic porphyria results from the markedly deficient activity of the heme
biosynthetic enzyme, delta-aminolevulinate dehydratase (ALA-D)."
SOURCE:
American Journal of Human Genetics
1991
Jul;49(1):167-74
ALA-D porphyria
Desnick RJ.
Division of Medical and Molecular Genetics
Mount Sinai School of Medicine
Manhattan, New York, NY 10029.
+++++++++++++++++++++++
In ALA-D the inheritance seems to be mostly with an almost complete ALA-D
deficiency in the homozygous state.
Heterozygotes are clinically non-affected.
In families the mode of transmission can be traced by enzyme activity and
electrophoretic polymorphism studies. "
Quantitative assays and the segregation pattern suggest a 3-allele-system for
the inheritance of ALA-D deficiency."
SOURCE:
Clinical Genetics
1986
Sep;30(3):191-8
ALA-D in families with inherited
enzyme deficiency
Doss M et. al.
++++++++++++++++++++++
In Delta-aminolevulinic acid (ALA) dehydratase porphyria racial prevalence has
not been determined.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
++++++++++++++++++++
Immunoreactive delta-aminolevulinate dehydrase (ALA-D)enzyme is found to be
at least 2% below the normal range.
The molecular basis that accounts for the deficiency of ALA-D is a structurally
modified enzyme."
SOURCE:
Human Genetics
1985;69(2):174-7
Hereditary hepatic porphyria with ALA-D
de Nordmann Y. et.al.
++++++++++++++++++++
All reported cases of Delta-aminolevulinic acid (ALA) dehydratase porphyria
have occurred in men.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
++++++++++++++++++++
ALAD is considered a very rare form of porphyria.
SOURCE:
Robert Johnson M.D.
+++++++++++++++++++
ADP (ALA-D) is extremely rare.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
++++++++++++++++++++
ALA-D porphyria is also known as Doss porphyria and named for Dr. Doss who
isolated and identified this rare form of porphyria."
SOURCE:
The Porphyrias
A. Kappas et al.
1995, pp 2103-2159
The Metabolic and Molecular Bases of Inherited Disease
vol. 2,
(C.R. Scriver et al., eds.), McGraw Hill
+++++++++++++++++++++
The symptoms and signs of ALA-D resemble those of the acute porphyrias but
can also include hemolysis and anemia.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
+++++++++++++++++++
Symptoms of ALA-D may begin in infancy or adulthood.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++++++
Delta-aminolevulinic acid (ALA) dehydratase porphyria has had initial
presentation occurring in patients ranging from infancy to elderly persons.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
++++++++++++++++++
ALA-D families such as this may be at increased risk for the serious
consequences of lead poisoning, which produces marked inhibition of ALA-D
activity."
SOURCE:
American Journal of Human Genetics
1979
Nov;31(6):662-8
Inherited deficiency of delta-aminolevulinic acid dehydratase.
Bird TD, et. al.
+++++++++++++++++++++
ALA dehydratase porphyria (ADP) and congenital erythropoietic
porphyria (CEP) usually have their onset in early childhood.
SOURCE:
Late onset porphyrias: What are they?
Sassa S, et. al.
Biochemical Hematology Lab,
Rockefeller University
New York, NY
Cellular & Molecular Biology
Noisy-le-grand
2002 Feb;48(1):97-101
++++++++++++++++++++
5-Aminolaevulinate dehydratase deficiency porphyria is a rare, autosomal
recessive acute porphyria that may present at any age.
SOURCE:
"Hepatic porphyrias in children."
Elder, G. H. (1997).
Journal of Inherited Metabolic Diseases
20(2): 237-46.
++++++++++++++++++++++
ADP is very similar to AIP however it begins often before puberty.
SOURCE:
ADP Porphyria
Drs. M. Doss, R. von Tiepermann, and J. Lundgren.
Journal of Biochemistry
12:823, 1980
++++++++++++++++++++++++
This enzyme activity of Delta-aminolevulinic acid (ALA) dehydratase porphyria is
associated closely with cytochrome P-450 activity.
Therefore, induction of the P-450 system is associated with increased ALA
accumulation, and this predisposes patients to the symptoms of porphyria.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
++++++++++++++++++++
ALA-D conditions can also present with symptoms (abdominal pain, ileus, and
motor neuropathy) that are strikingly similar to those of the acute porphyrias.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++++++++
Delta-aminolevulinic acid (ALA) dehydratase porphyria has highly variable
symptomatology, ranging from failure to thrive in infancy in to the development
of a polyneuropathy in elderly persons.
SOURCE:
ALA DEhydratase Deficiency Porphyria (ALA-D)
Mark J Shumate, MD, MPH
Assistant Professor
Department of Internal Medicine
Division of Hematology/Oncology
Emory University
++++++++++++++++++++++
Urinary delta-aminolevulinic acid but not porphobilinogen, is increased in
delta-aminolevulinic acid dehydratase-deficient porphyria, a very rare form of
acute porphyria due to an inherited deficiency of delta-aminolevulinic acid
dehydratase.
SOURCE:
Primer on Laboratory Testing for Porphyrias
Dr. Karl E. Anderson
Porphyria Laboratory
University of Texas Medical Branch
+++++++++++++++++++++
The symptomology of ADP is similar to AIP.
SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
+++++++++++++++++++++
ALA-D has the the same clinical features as the other acute hepatic porphyrias.
Peripheral neuropathy also presents in ALA-D but it is not well defined. "
SOURCE:
The Neuromuscular Disease Center
Washington University School of Medicine
St. Louis, MO.
++++++++++++++++++
ALA-D symptoms can include slight cough with low-grade fever, followed by
bronchopneumonia, and the other normal hepatic porphyria symptoms.
SOURCE:
Kobe Journal of Medical Science
1995
Apr;41(1-2):23-31
Delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP)
with syndrome of inappropriate secretion of antidiuretic hormone
(SIADH)
Muraoka A, et. al.
++++++++++++++++++
Treatment for the ADP is the same as that for AIP."
SOURCE:
ADP Porphyria
Drs. M. Doss, R. von Tiepermann, and J. Lundgren.
Journal of Biochemistry
12:823, 1980
++++++++++++++++++++
IV glucose is the treatment of choice for ALA-D patients.
SOURCE:
Robert Johnson M.D.
+++++++++++++++++
Laboratory tests can reveal an abnormal antidiuretic hormone (ADH) level.
As the cause of SIADH, therefore, porphyria issuspected."
SOURCE:
Kobe Journal of Medical Science
1995
Apr;41(1-2):23-31
Delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP)
with syndrome of inappropriate secretion of antidiuretic hormone
(SIADH)
Muraoka A, et. al.
Department of Internal Medicine
Suma Red Cross Hospital
Kobe, Japan.
+++++++++++++++++++++
In ALA-D urinary ALA and coproporphyrin III and erythrocyte zinc protoporphyrin
are markedly increased.
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
+++++++++++++++++++++
The diagnosis pf ALA-D is made by finding an excess of ALA and
coproporphyrin in urine and a deficiency of ALA dehydratase in erythrocytes
SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++++++
Subacute motor neuropathy can develop in ALA-D porphyria patients.
It has been documented as starting as late as age 63 in a male ALA-D patient.
A myeloproliferative disorder was found."
SOURCE:
Journal of Neurological Sciences
1990
January 95(1):39-47
Porphyric neuropathy and hereditary ALA-D
Verstraeten L, et. al
Department of Neurology
University Hospital of Antwerp
Belgium.
++++++++++++++++++++++ +++
Amino levulinic acid dehydratase deficiency (ALAD) is a very rare form of
porphyria.
SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
++++++++++++++++++
|