The Experts below are selected from a list of 228 Experts worldwide ranked by ideXlab platform
Martin Jude - One of the best experts on this subject based on the ideXlab platform.
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Acute Intermittent Porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain.
Practical neurology, 2020Co-Authors: Grace Swart, Su San Lim, Martin JudeAbstract:Acute Intermittent Porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with Acute Intermittent Porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute Intermittent Porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.
Grace Swart - One of the best experts on this subject based on the ideXlab platform.
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Acute Intermittent Porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain.
Practical neurology, 2020Co-Authors: Grace Swart, Su San Lim, Martin JudeAbstract:Acute Intermittent Porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with Acute Intermittent Porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute Intermittent Porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.
Manfred O. Doss - One of the best experts on this subject based on the ideXlab platform.
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Biochemical compared to molecular diagnosis in Acute Intermittent Porphyria.
Journal of inherited metabolic disease, 2006Co-Authors: U. Groß, Hervé Puy, Karl Jacob, Jean Charles Deybach, J. Kremer, Manfred O. DossAbstract:The biochemical and the molecular diagnoses of an inherited Porphyria require experience. False positive or negative screening tests and the low penetrance of the disease make a correct diagnosis difficult.The biochemical and the molecular procedures for the diagnosis of Acute Intermittent Porphyria were applied to five unrelated patients suffering from Acute Intermittent Porphyria. All patients were shown to be gene carriers of Acute Intermittent Porphyria by both methods. The two different possibilities of the diagnosis corresponded well. In a family definitively identified by molecular diagnosis of one of the patients and his relatives, the patient's two children were asymptomatic. His son was shown to be a gene carrier of the father's deficiency by biochemical as well as molecular analysis, whereas his daughter was not affected by Acute Intermittent Porphyria.
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Heterogeneity of Acute Intermittent Porphyria : A subtype with normal erythrocyte porphobilinogen deaminase activity in Germany
European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies, 1996Co-Authors: U. Groß, Honcamp M, Manfred O. DossAbstract:Patients with Acute Intermittent Porphyria can be subdivided into three groups, according to the porphobilinogen deaminase activity in their erythrocytes. The first group has lowered, the second overlapping and the third normal porphobilinogen deaminase activity. Of 385 Acute Intermittent Porphyria patients 5% had normal porphobilinogen deaminase activity. Gene carriers of Acute Intermittent Porphyria, which have normal porphobilinogen deaminase activity but display slight, moderate or high aberrations of excretion, are recognized by analysis of urinary haem precursors and faecal porphyrins. Six individuals suffering from Acute Intermittent Porphyria were detected in three families with normal porphobilinogen deaminase. There were no differences in the latent and clinical phases of Acute Intermittent Porphyria between patients with lowered and those with normal porphobilinogen deaminase. One female with normal activity in erythrocytes, in which the Porphyria disease process is triggered by barbiturates and carbamazepine, is presented. After therapy with high doses of glucose and omission of inducing agents, this woman was free of symptoms, and the excretion of different urinary porphyrin precursors and porphyrins decreased by between 65 and 93%.
Franciszek Kokot - One of the best experts on this subject based on the ideXlab platform.
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Hemodialysis--is it a method of Acute Intermittent Porphyria treatment? Case report
Polskie Archiwum Medycyny Wewnetrznej, 1999Co-Authors: Witold Ignacy, Andrzej Więcek, Franciszek KokotAbstract:In this paper a female patient with severe Acute Intermittent Porphyria is presented in whom routine pharmacological treatment was unsuccessful. After five haemodialysis sessions a dramatic improvement of the clinical status was observed in spite of markedly elevated urinary excretion of porphyrin metabolites. Further studies are mandatory in order to evaluate the effectiveness of Acute Intermittent Porphyria treatment.
Su San Lim - One of the best experts on this subject based on the ideXlab platform.
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Acute Intermittent Porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain.
Practical neurology, 2020Co-Authors: Grace Swart, Su San Lim, Martin JudeAbstract:Acute Intermittent Porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with Acute Intermittent Porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute Intermittent Porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.
