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PubMed1988

Acute intermittent porphyria (AIP)--an unusual cause of acute confusional state. A case report.

Acute intermittent porphyria (AIP) presenting as acute confusional state without the classical features of recurrent abdominal pain, constipation, vomiting is uncommon. Such presentation in a young Malay man after a mild upper respiratory tract infection is reported. This is the first case of AIP with psychiatric symptomatology to be reported locally. The subsequent neuropsychiatric changes and interesting EEG changes are briefly discussed.

Acute Disease↗
PubMed1990

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.

The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations in the parents are different from each other and both of them correspond to previously identified G to A changes in the coding part of the porphobilinogen deaminase mRNA. These point mutations lead to the presence of a catalytically-defective but immunologically-reactive enzyme. Our results support the conclusion that the propositus girl may represent the first case of compound heterozygosity for acute intermittent porphyria alleles.

Acute Disease↗
PubMed2002

Respiratory failure in acute intermittent porphyria.

We report two patients of acute intermittent porphyria (AIP) who presented with acute respiratory failure. Only one such previous report could be found. Occasionally, neuropathy may be the presenting feature in AIP which may progress to respiratory embarrassment. The cause of this neuropathy has been hypothesized to be direct neurotoxicity of delta-ALA by interaction with GABA receptor, altered tryptophan metabolism and may be heme depletion in nerve cells.

Adult↗
PubMed1979

Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrinogen I synthetase (uro I syn). The ascertainment rate of latent AIP (that is, chemically manifest but clinically asymptomatic) was examined in 185 individuals from 12 AIP kindreds using three parameters: red cell uro I syn, quantitative urinary PBG, and pedigree analysis with respect to uro I syn. Approximately 80% of individuals could be assigned as normal or latent AIP on the basis of the uro I syn assay alone. The remaining 20% could not be assigned because of an intermediate range of activity for the red cell assay in which the diagnosis cannot be certain. When the pedigree was used in the evaluation of the uro I syn data, the number of uncertain individuals, with respect to AIP, decreased to 10%. The enzyme method detected latent AIP in 37.5% of blood relatives, whereas quantitative urinary PBG alone detected only 15.2%. The pattern of inheritance for the uro I syn deficiency is consistent with Mendelian dominant inheritance, and it is likely that it is the basic inherited defect in AIP.

Ammonia-Lyases↗
PubMed1989

[Acute intermittent porphyria: a clinical case].

The acute intermittent porphyria is a rare but very interesting disease from the surgical and anaesthesiological point of view. On the basis of recently observed case the Authors review clinical and pathophysiological data of this entity simulating a variety of acute abdominal conditions and involving important problems from the anaesthesiological and pharmacological point of view. As a matter of fact, the administration of some drugs can provoke a crisis that often involves serious complications (coma), sometimes lethal (respiratory paralysis). However, when a patient needs a surgical treatment for different reasons, the awareness of this condition enables to plan an anaesthesiological management free of risks.

Abdomen, Acute↗
PubMedDate not supplied

[Does hyperthyroidism occur in acute intermittent porphyria?].

During an attack of acute intermittent porphyria clinical signs appear characteristic of hyperthyroidism. For assessing thyroid function in 40 patients with this type of porphyria (22 during attack and 18 during remission) the determinations were done of serum triiodothyronine (T3), thyroxine (T4) and thyroid stimulating hormone (TSH) by radioimmunoassay, calculating also the index of free thyroxine (IFT4) by means of the test of resin T3 uptake. During the attack of porphyria the mean T4 level was increased (p less than 0.05), normal T3 and TSH values were normal, and IFT4 level non-significantly decreased. These results suggest raised level of thyroxine-transporting protein. During remission the levels of T3 and T4 were within normal range, but TSH level was raised without statistical significance, while the level of IFT4 was significantly decreased (p less than 0.01). The results of the investigations suggest the conclusions that in this type of porphyria no hyperthyroidism is present during porphyria attack and in remission.

Acute Disease↗
PubMed1998

Treatment of seizures in acute intermittent porphyria: safety and efficacy of gabapentin.

Treatment of seizures in acute intermittent porphyria represents a therapeutic dilemma. Patients needing chronic therapy often experience acute porphyric attacks due to increased hepatic metabolism induced by the antiepileptic drugs themselves. Gabapentin is a new antiepileptic drug not appreciably metabolized by the liver in humans, and it appears to be safe and effective in the maintenance therapy of epilepsy in these patients. We report a patient affected by partial and generalized seizures in the course of acute intermittent porphyria, who was safely and successfully treated with gabapentin.

Acetates↗
PubMed1990

Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction.

Acute intermittent porphyria (AIP) is due to a defect in porphobilinogen deaminase (PBGD, E.C. 4.1.3.8) inherited as an autosomal dominant trait. Presymptomatic carrier detection is important in order to avoid exposure to factors inducing severe clinical symptoms. Carriers and noncarriers of the AIP gene can be distinguished by linkage analysis using three intragenic RFLPs in AIP families. In the present study, the polymerase chain reaction (PCR) was used to amplify 3.3-kb genomic sequences covering three polymorphic sites. Haplotypes were identified after cleavage of amplified products with three restriction enzymes, showing that the technique can be successfully used for linkage analysis in AIP families.

Acute Disease↗
PubMed1989

[Autonomic dysfunctions in acute intermittent porphyria].

A young woman with acute intermittent porphyria is described. She was admitted in a prolonged attack and had developed a flaccid quadriplegia. During the course she showed various manifestations of the autonomic nervous system, including pupils, gastrointestinal tract, cardiovascular system and others. On admission her pupils were equally mydriatic, and reacted to light sluggishly. Dilation of the pupils was seen when cocaine was instilled, but not when adrenalin. It was suggested that the parasympathetic control of pupils was disturbed. She complained repeatedly abdominal pain, nausea, vomiting, and constipation. However, diarrhea was rarely found. Radiological examinations revealed that her bowel movements were markedly impaired. Sinus tachycardia and elevation of blood pressure were frequently observed with attacks, and they correlated with the clinical course. With tachycardia the coefficient variance of R-R interval was markedly decreased, and large dose of atropine failed to accelerate the heart rate. These indicate that the vagal function was markedly impaired with attacks. The effects of isoproterenol and of propranolol on the heart rate were normal. Phenylephrine and phentolamine changed the blood pressure normally. From these it was concluded that the sympathetic nervous function was not so impaired at the time examined. However, with the elevation of blood pressure plasma and urinary noradrenaline were markedly increased. Other autonomic and related manifestations observed during the course included disorders of sweating, loss of sphincter control, fever of unknown cause and amenorrhea.

Acute Disease↗
PubMed1988

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.

Two unrelated families with acute intermittent porphyria (AIP), an autosomal dominant disease related to a defect in porphobilinogen deaminase (PBG-D, EC 4.1.3.8.), were studied with regard to three restriction fragment length polymorphisms (RFLPs) (MspI, PstI, BstNI) within the PBG-D gene. The results indicate that linkage analysis of RFLPs within the gene can be used as a complement to PBG-D analysis for the diagnosis of gene carriers in families with AIP.

Ammonia-Lyases↗
PubMed1997

[A case of acute intermittent porphyria].

A case of an acute attack of porphyria acuta intermittens is presented. A patient was admitted with severe abdominal pain and hypertension. He had excessive excretion of porphobilinogen (PBG) and aminolaevulinicacid (ALA) in the urine and a reduced activity of ery-PBG deaminase (PBGD). The patient was not aware that he was a member of a large "porphyria-family". DNA-analysis showed that he had a hitherto underscribed G to A mutation. This paper shows: 1) The importance of family studies: 2) The risk of developing neurogenic attacks among gene carriers if exposed to precipitating factors. 3) The significance of having the diagnosis of porphyria in mind in every uncertain case of abdominal pain, progressive paresis and psychiatric disease.

Humans↗
PubMed2001

Pretransplant evaluation of a patient with acute intermittent porphyria.

The pretransplant evaluation of a patient with a rare diagnosis requires knowledge of the pathophysiology and the transplant literature. A 55-year-old man presented with hypertensive kidney failure and the clinical diagnosis of acute intermittent porphyria. Complications of acute intermittent porphyria, which is a defect of heme production, are due to the accumulation of heme intermediates often precipitated by medications. Based on animal data, cyclosporine is considered unsafe in patients with acute intermittent porphyria. As part of the pretransplant evaluation, the patient received separate trials of tacrolimus and cyclosporine, which did not stimulate his acute intermittent porphyria. Four months after a kidney transplant, the patient still had no signs of rejection or symptoms of acute intermittent porphyria. This is the first documented patient with acute intermittent porphyria who successfully received a kidney transplant using tacrolimus. Because of individual variations, pretransplant testing of calcineurin inhibitors should be continued in patients with acute intermittent porphyria.

Aged↗
PubMed1999

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.

Acute intermittent porphyria is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen deaminase (PBGD). Many different strategies have been developed to screen for mutations. However the high prevalence (0.6 per thousand) of PBGD gene defect, the large allelic heterogeneity of mutations (n = 130), and the limitations of the PBGD enzymatic assay for asymptomatic patients' detection, require for diagnosis an efficient and easy to handle strategy for locating mutations within the PBGD gene. In a recent study the sensitivity of the denaturing gradient gel electrophoresis (DGGE) technique was 100%. However DGGE requires the preparation of gradient gels and the use of primers with long GC-clamps; thus alternative methods should be preferable in the clinical laboratory. We have compared the detection rate of DGGE with heteroduplex analysis (HA) using 16 characterized PBGD gene mutations. Six different HA conditions were used to determine the efficiency of the method, including: (1) MDE (mutation detection enhancement) gel concentration; (2) addition of urea and sodium dodecyl sulfate (SDS); (3) radioactive labelling. The sensitivity of each HA condition varied from 31 to 81% vs. 100% in DGGE analysis. HA using 1 x MDE with 15% urea with or without 0.55% SDS was the most sensitive condition. This first comparative study of DGGE and HA mutation screening methods suggests that DGGE is a more sensitive screening assay than optimized HA. However, because of its simplicity HA should be considered as an efficient alternative mutation screening method.

DNA↗
PubMed1999

[Acute intermittent porphyria: a possible cause of abdominal pain].

Acute intermittent porphyria (AIP) is an inherited disorder of heme metabolism. It can produce a variety of symptoms including abdominal pain. In Spain it is an uncommon disease and consequently may not be included in the differential diagnosis of acute abdominal pain. Two cases of AIP are reported, both of which started with recurrent abdominal pain. A brief commentary of the main topics of the disease is made with special emphasis on the importance of an early diagnosis.

Abdominal Pain↗
PubMed1997

Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.

Acute intermittent porphyria (AIP) is an autosomally dominant inherited metabolic disorders caused by decreased activity of porphobilinogen deaminase, the third enzyme in the human heme biosynthetic pathway. We report here the first mutations in the human porphobilinogen deaminase gene in seven unrelated patients from the Czech and Slovak Republics with acute intermittent porphyria. We used denaturing gradient gel electrophoresis to screen all 15 exons and exon/intron boundaries of the porphobilinogen deaminase gene. Polymerase chain reaction products of abnormal migration patterns were subjected to direct sequencing to identify the causative mutations. Thus we revealed four novel mutations and three which have been previously described. Of the four novel mutations, two were mis-sense (G24S, V267M), one was a single base insertion (158insA) that produced a stop codon 12 codons downstream, and one was a single base substitution in intron 12 (771 + 1) resulting in a splicing defect. The three previously detected mutations were mis-sense mutations (R26C, R26H, G111R). These results suggest a high allelic heterogeneity in Czech and Slovak patients.

Aminolevulinic Acid↗