scholarly journals Acute intermittent porphyria ( AIP ), givosiran and homocysteine

2021 ◽  
Author(s):  
Antonio Fontanellas ◽  
Matías A. Ávila ◽  
Elena Arranz ◽  
Rafael Enríquez de Salamanca ◽  
Montserrat Morales‐Conejo
Keyword(s):  
Acute Intermittent Porphyria

Seven novel genetic mutations within the 5′UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria

2012 ◽  
Vol 49 (3-4) ◽  
pp. 147-151 ◽  
Author(s):  
Valentina Brancaleoni ◽  
Francesca Granata ◽  
Alessandra Colancecco ◽  
Dario Tavazzi ◽  
Maria Domenica Cappellini ◽  
...  
Keyword(s):  
Acute Intermittent Porphyria ◽  
Genetic Mutations

scholarly journals Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

2013 ◽  
Vol 85 (3) ◽  
pp. 1207-1214 ◽  
Author(s):  
ANNA R.R. DOS SANTOS ◽  
RAFAELA R. DE ALBUQUERQUE ◽  
MARIA J.R. DORIQUI ◽  
GRACIOMAR C. COSTA ◽  
ANA PAULA S.A. DOS SANTOS
Keyword(s):  
Biochemical Parameters ◽  
Contraceptive Use ◽  
Aminolevulinic Acid ◽  
Neuropsychiatric Symptoms ◽  
Acute Intermittent Porphyria ◽  
Signs And Symptoms ◽  
Acute Porphyria ◽  
Reactive Protein ◽  
Hematological Analysis ◽  
Hematological And Biochemical Parameters

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, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

1999 ◽  
Vol 13 (6) ◽  
pp. 443-447 ◽  
Author(s):  
U Groß ◽  
H Puy ◽  
M Doss ◽  
AM Robreau ◽  
Y Nordmann ◽  
...  
Keyword(s):  
Acute Intermittent Porphyria ◽  
New Mutations
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