scholarly journals δ-Aminolevulinic Acid Synthetase Activity in Human Plasma: Relation to Erythropoiesis and Evidence of Induction in Erythropoietic Porphyria

Blood ◽  
1972 ◽  
Vol 39 (1) ◽  
pp. 13-22 ◽  
Author(s):  
KEN MIYAGI ◽  
C. J. WATSON
Keyword(s):  
Human Plasma ◽  
Peripheral Blood ◽  
Aminolevulinic Acid ◽  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Synthetase Activity ◽  
Significant Activity ◽  
Large Numbers ◽  
Normal Individuals ◽  
Method Of Measurement

Abstract Measurement of δ-aminolevulinic acid synthetase (ALA-S) activity in human plasma has been carried out with samples from normal individuals, cases of erythropoietic porphyria (EP) and erythropoietic protoporphyria (EPP), and of the three principal forms of hepatic porphyria—acute intermittent porphyria, variegate porphyria, and porphyria cutanea tarda. The method of measurement depends on formation of 14C-ALA when the plasma is incubated with 14C-succinic acid, succinyl-Co A synthetase, glycine, and other essential substances. The normal samples, as well as those from the hepatic porphyria cases, had small but significant activity of the same extent; those from the erythropoietic group showed consistently higher values, especially in the two cases of congenital type. A remarkably high value in one of these cases in which there was outspoken erythropoiesis was believed to be related to the presence of many fluorescing normoblasts in the peripheral blood. Following multiple transfusions these disappeared concomitantly with striking reduction of the porphyria. The plasma ALA-S activity declined to 1.4% of the pretransfusion value. These results are considered in respect to the question of induction of ALA-S in the developing red cells of the disease, special attention being given to the minor increase of ALA-S activity in the plasma of a nonporphyric individual whose peripheral blood contained large numbers of circulating normoblasts.

The Porphyrias

2016 ◽  
Author(s):  
Karl E Anderson ◽  
Attallah Kappas
Keyword(s):  
Biosynthetic Pathway ◽  
Aminolevulinic Acid ◽  
Clinical Symptoms ◽  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Genetic Traits ◽  
Molecular Defects ◽  
Clinical Presentations ◽  
Congenital Erythropoietic Porphyria ◽  
Hereditary Coproporphyria

The porphyrias are uncommon disorders caused by deficiencies in the activities of enzymes of the heme biosynthetic pathway. The enzymatic defects that cause porphyrias are inherited, with the exception of porphyria cutanea tarda, which is primarily acquired. In all porphyrias, there is significant interplay between genetic traits and acquired or environmental factors in the expression of clinical symptoms. This review discusses the classification, pathophysiology, and clinical presentations of the porphyrias. These include those associated with neurovisceral attacks (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase [alad] deficiency porphyria) and the porphyrias associated with cutaneous photosensitivity (porphyria cutanea tarda, hepatoerythropoietic porphyria, erythropoietic protoporphyria, and congenital erythropoietic porphyria). Specific emphasis on the epidemiology, molecular defects and pathophysiology, clinical features, diagnosis, and treatment are discussed for each of these disorders. A table lists the safe and unsafe drugs for patients with porphyrias. Figures illustrate the genetic pathways of the disorders and the activities of enzymes of the heme biosynthetic pathway. This review contains 2 highly rendered figures, 1 table, and 96 references.

scholarly journals Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

2013 ◽  
Vol 85 (3) ◽  
pp. 1207-1214 ◽  
Author(s):  
ANNA R.R. DOS SANTOS ◽  
RAFAELA R. DE ALBUQUERQUE ◽  
MARIA J.R. DORIQUI ◽  
GRACIOMAR C. COSTA ◽  
ANA PAULA S.A. DOS SANTOS
Keyword(s):  
Biochemical Parameters ◽  
Contraceptive Use ◽  
Aminolevulinic Acid ◽  
Neuropsychiatric Symptoms ◽  
Acute Intermittent Porphyria ◽  
Signs And Symptoms ◽  
Acute Porphyria ◽  
Reactive Protein ◽  
Hematological Analysis ◽  
Hematological And Biochemical Parameters

Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.

scholarly journals Bleomycin sensitivity in patients with familial and sporadic polyposis: a pilot study

1999 ◽  
Vol 22 (1) ◽  
pp. 17-20
Author(s):  
Magaly M. Sales ◽  
Edmundo J. de Lucca ◽  
Seizo Yamashita ◽  
Luis Henrique Cury Saad
Keyword(s):  
Pilot Study ◽  
Familial Adenomatous Polyposis ◽  
Peripheral Blood ◽  
Human Peripheral Blood ◽  
Peripheral Blood Lymphocytes ◽  
Adenomatous Polyposis ◽  
Blood Lymphocytes ◽  
Human Peripheral Blood Lymphocytes ◽  
Normal Individuals ◽  
G2 Phase

Human peripheral blood lymphocytes from 10 patients with familial adenomatous polyposis (FAP) showed a significantly higher incidence of chromatid breaks when compared to cells from 10 normal individuals, after exposure to bleomycin (BLM) during the G2 phase. However, no significant increase in bleomycin sensitivity was observed in lymphocytes from 10 patients with sporadic adenomatous polyps (AP) vs. 10 normal individuals (P = 0.67). Individuals that exhibited an average number of chromatid breaks per cell higher than 0.80 were considered sensitive to the drug. No control showed susceptibility to BLM, as compared to 3 out of 20 patients.

scholarly journals Role of therapeutic phlebotomy in management of case of porphyria cutanea tarda (PCT) admitted in tertiary care hospital Vadodara  

2020 ◽  
Vol 8 (1) ◽  
pp. 4-6
Author(s):  
Ashu Dogra
Keyword(s):  
Aminolevulinic Acid ◽  
Tertiary Care Hospital ◽  
Porphyria Cutanea Tarda ◽  
Tertiary Care ◽  
Skin Lesions ◽  
Clinical Feature ◽  
Care Hospital ◽  
Skin Symptoms ◽  
Characteristic Clinical Feature

Porphyria cutanea tarda is the most frequent type of Porphyria worldwide & presents with skin symptoms mainly. Porphyrias can affect peripheral, autonomic and central nervous system. In Porphyria conditions there is accumulation of heme precursors 5 Aminolevulinic acid, Porphobilinogen and porphyrins which are associated with characteristic clinical feature with acute neurovisceral attacks and skin lesions. This case report summarizes Case of PCT that was successfully managed with Therapeutic Phlebotomy.

Purine metabolism in human T lymphocytes: role of the purine nucleoside cycle

1984 ◽  
Vol 62 (7) ◽  
pp. 577-583 ◽  
Author(s):  
Amos Cohen ◽  
Jerzy Barankiewicz ◽  
Howard M. Lederman ◽  
Erwin W. Gelfand
Keyword(s):  
T Lymphocytes ◽  
Peripheral Blood ◽  
De Novo ◽  
S Phase ◽  
Purine Metabolism ◽  
Purine Nucleoside ◽  
Significant Activity ◽  
Purine Nucleotides ◽  
Biosynthetic Activity ◽  
Cycle Dependent

Human intrathymic T lymphocytes were separated by a bovine serum albumin density gradient into a population of G1-phase small thymocytes and a population of S-phase-enriched large thymocytes. Purine metabolism was studied in these thymocyte populations, representing immature T lymphocytes, and compared with the metabolism of mature T lymphocytes isolated from the peripheral blood. De novo purine biosynthesis was highly cell cycle dependent; i.e., de novo purine biosynthetic activity was found only in large S-phase thymocytes, whereas both G1 T-cell populations lacked any significant activity. Thus G1-phase small thymocytes and G1-phase peripheral blood T lymphocytes have only salvage pathways to maintain their purine nucleotide pools. Despite the similarity of purine salvage activities in G1 thymocytes and in peripheral blood T lymphocytes, small thymocytes have fourfold lower levels of purine nucleoside triphosphates. The decreased levels of purine nucleotides in G1 thymocytes may be the result of increased purine efflux. It was found that an unusually large proportion (24–48%) of hypoxanthine incorporated by G1 thymocytes is excreted into the medium in the form of inosine.

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