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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

++++++++++++++++++

DISCLAIMER
PORPHYRIA FACTS is a medical education website dedicated to helping you focus your research on the inherited metabolic diseases known as the "Porphyrias".

PORPHYRIA FACTS is for individuals seeking information on Porphyria. The specific focus is on education, and research in the porphyrias.

PORPHYRIA FACTS present medical citations from medical professionals and others qualified and knowledgeable in the porphyrias.


PORPHYRIA FACTS takes no responsibility for medical information that is discussed here. You are encouraged to always seek medical advice before trying any new protocols. Open communication with your physician is important in developing effective treatment protocols.

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