1/8. psychotropic drugs in acute intermittent porphyria.Acute intermittent porphyria is one of a group of metabolic diseases called the porphyrias that may lead to symptoms of the central nervous system during an acute exacerbation. Certain drugs such as barbiturates are known to precipitate attacks of acute intermittent porphyria, but unfortunately there is little information regarding the safety of many psychotropic drugs in this disorder, especially the newer antidepressants and atypical antipsychotics. We report a case of an elderly patient with acute intermittent porphyria who was treated with a variety of psychotropic agents for a severe depression with psychotic features. Although many of the agents did not improve the psychiatric status of the patient, all the drugs were tolerated without precipitating an episode of acute intermittent porphyria. To our knowledge, this is the first report of the safe use of sertraline, venlafaxine, olanzapine, risperidone, clozapine, buspirone, trazodone, lorazepam, and clonazepam in a patient with documented acute intermittent porphyria. Our report also supports the safety of trifluoperazine. Although response and sensitivity to drugs may vary greatly among patients with this disorder, clinicians may want to consider the possibility of the above drugs to treat psychiatric symptoms in patients with acute intermittent porphyria.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/8. Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis.Acute intermittent porphyria (AIP) is an autosomal-dominant disease caused by a deficiency of porphobilinogen (PBG) deaminase. patients with AIP present with neurological syndromes such as autonomic neuropathy, peripheral axonal neuropathy or central nervous system dysfunction. We report serial MRI of a patient with AIP who had cortical and subcortical cerebral changes. A 29-year-old woman with a 6-month history of AIP had an attack with severe hyponatraemia and generalised convulsions, treated with haem arginate and supportive therapy. MRI showed central pontine and extrapontine myelinolysis and cortical laminar necrosis. These are not common in AIP, but are likely to have been caused by rapid correction of hyponatraemia and by vasospasm, which could be induced by AIP.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
3/8. rhabdomyolysis in a patient with acute intermittent porphyria.There are several conditions associated with rhabdomyolysis, such as direct muscle injury, viral infections, metabolic disorders and toxic effects from ingestion of drugs such as alcohol, opiates, cocaine or heroin. We report on a patient who was admitted to the accident and emergency unit with a clinical presentation of rhabdomyolysis and acute intermittent porphyria.- - - - - - - - - - ranking = 2122.4545892449keywords = metabolic disorder (Clic here for more details about this article) |
4/8. The use of rocuronium and sevoflurane in acute intermittent porphyria--a case report.Acute intermittent porphyria (AIP) is an inherited metabolic disorder caused by deficiency of porphobilinogen deaminase, an enzyme found in the synthetic pathway of heme. Acute attack of AIP may be precipitated by many factors during operation and anesthesia, including fasting, dehydration, stress, infection, and drugs. Acute attack of AIP is likely fatal. Therefore, the drugs recommended as being safe in anesthesia for porphyria patients are up-to-dately refreshed and renovated and the identification of whether a drug is safe or not is based on cumulative anecdotal experiences. Here, we report the safe use of rocuronium and sevoflurane for long exposure in a patient affected with acute intermittent porphyria.- - - - - - - - - - ranking = 2122.4545892449keywords = metabolic disorder (Clic here for more details about this article) |
5/8. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.Acute intermittent porphyria (AIP) is a metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase (PBGD, EC 4.3.1.8) activity. Previous haplotype analysis combined with genealogical data suggested a common origin of the PBGD gene mutation in the AIP families originating from northern sweden (Lappland), where the highest prevalence of the disease (1 in 1500) is observed. An AIP family from Lappland consisting of two patients and two unaffected subjects was investigated. The genomic dna fragments of the PBGD gene were amplified by polymerase chain reaction (PCR) and directly sequenced, and the sequence of the coding region was compared with the normal sequence to identify the mutation. A base substitution, G to A, in exon 10 of the PBGD gene was identified. The mutation changes the codon for Trp198 to a stop codon (nonsense mutation) and creates a recognition site for the restriction enzyme Nhe I. Screening of 33 Swedish AIP families showed that 15 had this mutation. Genealogical data revealed that 12 of the 15 families were related to the northern family. This finding supports the hypothesis of a "founder effect" of the mutation in the families originating from Lappland. In addition, a method is described for detection of specific sequences in the genome by one-sided PCR using taq polymerase. This method is simple, fast, and economical and can be substituted for hybridization analysis using allele-specific oligonucleotides.- - - - - - - - - - ranking = 2122.4545892449keywords = metabolic disorder (Clic here for more details about this article) |
6/8. An autopsy case of acute porphyria with a decrease of both uroporphyrinogen I synthetase and ferrochelatase activities.An autopsy case of a 37-year-old woman with acute porphyria is reported. The patient began to complain of severe menstrual pains, and later developed serious peripheral neuropathy and various autonomic nervous symptoms. The autopsy revealed a marked loss and degeneration of axons and myelin sheaths in the peripheral nervous system (PNS), and prominent central chromatolysis of the spinal anterior horn cells. The predominant process of the peripheral neuropathy appeared to be axonal degeneration. Biochemical analysis showed a marked increase of delta-aminolevulinic acid (ALA), porphobilinogen, uroporphyrin, and coproporphyrin in the urine, and an increase of coproporphyrin and protoporphyrin in the stools and blood. In the analysis of the enzymatic activities of the liver and bone narrow, the activity of ALA synthetase (ALA-S) was markedly increased, and the activities of both uroporphyrinogen I synthetase (URO-S) and ferrochelatase were decreased. It was characteristic in this case that the enzymatic abnormalities found in both acute intermittent porphyria (AIP) and variegate porphyria (VP) coexisted. Biochemical analysis of the sciatic nerve showed an increase of ALA-S activity and a decrease of both URO-S and ALA dehydrase activities. This was the first report that indicated the presence of abnormal activities of the heme biosynthetic enzymes in the peripheral nerves of porphyric patients. The possibility was discussed that these enzymatic abnormalities of the heme biosynthesis in the peripheral nerve itself might be strongly related to the pathogenesis of the porphyric neuropathy.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
7/8. Caring for patients with acute intermittent porphyria.The porphyrias are a group of metabolic disorders of heme biosynthesis genetically determined defects. Acute intermittent porphyria is the most common form of porphyria found in the united states. It is caused by a genetic defect in chromosome 11, where one of two genes for porphobilinogen deaminase is defective. Acute intermittent porphyria is characterized by intermittent, acute, occasionally fatal attacks of abdominal, neurologic, psychiatric, and renal symptoms. Attacks are often confused with acute abdomen or bowel obstruction. A variety of drug, hormonal, nutritional, and infectious factors can precipitate clinical symptoms. Managing patients with acute intermittent porphyria involves removing the precipitating factors, increasing carbohydrate intake, controlling pain, and administering medications. A case study is provided.- - - - - - - - - - ranking = 2122.4545892449keywords = metabolic disorder (Clic here for more details about this article) |
8/8. Acute intermittent porphyria first diagnosed in the third trimester of pregnancy. Case report.Acute intermittent porphyria (AIP) is a rare disorder of heme metabolism, which usually presents with abdominal pain, gastrointestinal symptoms and autonomic nervous system disturbances. Exacerbations first presenting during pregnancy can mimic various neuropsychiatric disorders and presents a challenging diagnosis. Furthermore, factors precipitating AIP attacks may be associated with pregnancy, including exposure to certain drugs, hyperemesis gravidum induced starvation, dieting and infection. The present case demonstrates the need for a high level of suspicion in order to diagnose this disorder in pregnancy and prevent further morbidity.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |