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| Ribeiro,Georgina Severo; Marchiori,Paulo Eurípedes; Hirata,Mário Hiroyuki; Rebecchi,Ivanise; Ozaki,Adriana Natsue; Nagai,Maria Aparecida; Santos,Mariana Lopes dos; Oliveira,Raimundo Antonio Gomes; Barretto,Orlando Cesar de Oliveira. |
| Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Acute intermittent porphyria; Hydroxymethylbilane synthase; Porphobilinogen deaminase; HMBS gene. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003 |
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| SANTOS,ANNA R.R. DOS; ALBUQUERQUE,RAFAELA R. DE; DORIQUI,MARIA J.R.; COSTA,GRACIOMAR C.; SANTOS,ANA PAULA S.A. DOS. |
| 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,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Acute intermittent porphyria; Anemia; C-reactive protein; Hyponatremia. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652013000301207 |
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