Consulta: subjectFacets:"Acute intermittent porphyria"
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Data/hora: 02/06/2024 16:18:49

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
Provedor de dados: 74
Autores: 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

Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
Provedor de dados: 42
Autores: 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