Acute Intermittent Porphyria Overview
Learn About Acute Intermittent Porphyria
- Acute intermittent porphyria
- AIP
- HMBS deficiency
- Hydroxymethylbilane synthase deficiency
- PBGD deficiency
- Porphobilinogen deaminase deficiency
- Porphyria, Swedish type
- UPS deficiency
- Uroporphyrinogen synthase deficiency
Karolinska Institutet
Eliane Sardh practices in Stockholm, Sweden. Ms. Sardh is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. Her top areas of expertise are Acute Hepatic Porphyria (AHP), Acute Intermittent Porphyria, Porphyria, and Variegate Porphyria.
Karolinska Institutet
Pauline Harper practices in Stockholm, Sweden. Ms. Harper is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. Her top areas of expertise are Acute Intermittent Porphyria, Porphyria, Acute Hepatic Porphyria (AHP), and Variegate Porphyria.
Antonio Fontanellas practices in Pamplona, Spain. Mr. Fontanellas is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. His top areas of expertise are Acute Intermittent Porphyria, Porphyria, Urea Cycle Disorders (UCD), and Inborn Amino Acid Metabolism Disorder.
Summary: This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.
Summary: The main aim of this clinical trial is to learn about the effect of carbohydrate-rich diet as a treatment for AIP (acute intermittent porphyria). Aim: Investigate the diet's impact on tissue and serum glucose, plasma insulin, cytokine levels, amino acids, and gut microbiota in AIP, and their correlation with PBG (Porphobilinogen). Aim: Assess the diet's effect on AIP symptoms and health status in ...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center