Disease relevance of Porphyria, Acute Intermittent

• Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria [1].
• These findings resemble those found in studies of affected nerves of patients with acute porphyria and thus provide strong evidence that PBGD deficiency causes degeneration of motor axons without signs of primary demyelination, thereby resolving a long-standing controversy [1].
• Lead poisoning and acute intermittent porphyria (AIP) may exhibit similar neurologic manifestations, and they have in common elevated excretion of urinary aminolevulinic acid (ALA) [2].
• These findings suggest that clonazepam may be a safe and effective treatment for chronic or severe generalized seizure disorders in patients with acute intermittent porphyria [3].
• An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity [4].

Psychiatry related information on Porphyria, Acute Intermittent

• Fluoxetine treatment of depressive symptoms in acute intermittent porphyria [5].

High impact information on Porphyria, Acute Intermittent

• Acute intermittent porphyria (AIP) is a human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD) [6].
• Lack of effect of pregnancy or hematin therapy on erythrocyte porphobilinogen deaminase activity in acute intermittent porphyria [7].
• Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone [8].
• Following a 3-week hospitalization, acute intermittent porphyria was diagnosed based on the symptoms and a high level of urinary delta-aminolevulinic acid (378 mumol/L [4.95 mg/dL]) [9].
• Cimetidine in the treatment of acute intermittent porphyria [10].

Chemical compound and disease context of Porphyria, Acute Intermittent

• Treatment of acute intermittent porphyria with large doses of propranolol [11].
• Two mutations of the porphobilinogen (PBG) deaminase gene resulting in cross-reacting immunological material (CRIM) positive forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA and cloning of the amplified products in a bacterial expression vector [12].
• As a paradox, patients with attacks of acute intermittent porphyria (AIP), exhibit low nocturnal plasma melatonin levels [13].
• Additionally, patients in whome the primary gene defect (uroporphyrinogen-I-synthetase deficiency) of acute intermittent porphyria has become clinically expressed have low levels of hepatic steroid delta4-5alpha-reductase activity [14].
• Phenobarbital, which exacerbates acute intermittent porphyria in man, induces drug-oxidizing enzymes in liver [14].

Biological context of Porphyria, Acute Intermittent

• Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme [15].
• A common two-allele MspI restriction fragment length polymorphism of the human erythroid porphobilinogen (PBG)-deaminase gene was investigated in 33 unrelated patients with acute intermittent porphyria (AIP) and 20 controls [16].
• High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria [17].
• Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria [18].
• Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria [19].

Anatomical context of Porphyria, Acute Intermittent

• Furthermore, all 12 patients with acute intermittent porphyria who had a liver biopsy because of abnormalities in the aminopyrine breath test or postprandial serum bile acids measurement, or both, were found to have diffuse, moderately severe, but nonspecific ultrastructural changes of hepatocytes, indicative of significant subcellular damage [20].
• In three patients with attacks of acute intermittent porphyria we found markedly impaired functions of the left ventricle accompanied by ECG changes that returned to normal after administration of heme arginate or cytochrome C administration [21].
• Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria [22].
• The formation of variation of delta-aminolevulinic acid (ALA) and of porphyrins, as well as respiratory metabolism, have been studied in skin fibroblasts from six normal control subjects and seven patients with acute intermittent porphyria [23].
• Use of sufentanil and atracurium anesthesia in a patient with acute porphyria undergoing coronary artery bypass surgery [24].

Gene context of Porphyria, Acute Intermittent

• Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations [25].
• Acute intermittent porphyria (AIP) is a genetic disorder caused by a deficiency of porphobilinogen deaminase (PBGD), the 3rd enzyme in heme synthesis [26].
• A case of non-hereditary acute porphyria, similar to acute intermittent porphyria, following treatment of epilepsy with carbamazepine is reported [27].
• Systemic lupus erythematosus and acute intermittent porphyria: coincidence or association [28]?
• Lack of certainty on the diagnosis of acute intermittent porphyria: comment on the concise communication by Cohen et al [29].

Analytical, diagnostic and therapeutic context of Porphyria, Acute Intermittent

• Intravenous infusion of hematin, used in the treatment of acute porphyria, induces a decline in the plasma factor VIII/von Willebrand factor complex (VIII/vWF) and thrombocytopenia [30].
• A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis [31].
• A patient with acute intermittent porphyria was given bupivacaine as part of a regional anaesthetic for Caesarean section [32].
• Diabetic oral glucose tolerance test together with hyperinsulinemia in a patient with decompensated acute intermittent porphyria is contrasted to normal findings in compensated acute intermittent porphyria (AIP) [33].
• The hydroxymethylbilane synthase (HMBS) mRNAs from 44 control individuals and 30 patients suffering from acute intermittent porphyria (AIP), were screened for length differences by reverse transcriptase polymerase chain reaction (RT-PCR) and any abnormalities were characterized by direct sequencing [34].

References