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Learn About Acute Intermittent Porphyria

What is the definition of Acute Intermittent Porphyria?
Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea.
What are the alternative names for 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
Who are the top Acute Intermittent Porphyria Local Doctors?
Hematology Oncology | Hematology | Oncology
Hematology Oncology | Hematology | Oncology

Tmg Northwest Georgia Oncology Center Inc

705 Dallas Hwy, Suite 204, 
Villa Rica, GA 
 (89.4 mi)
Languages Spoken:
English
Accepting New Patients

Bradley Larson is a Hematologist Oncology specialist and a Hematologist in Villa Rica, Georgia. Dr. Larson and is rated as a Distinguished provider by MediFind in the treatment of Acute Intermittent Porphyria. His top areas of expertise are Acute Hepatic Porphyria (AHP), Acute Intermittent Porphyria, Porphyria, Bone Marrow Aspiration, and Endoscopy. Dr. Larson is currently accepting new patients.

Internal Medicine
Internal Medicine

University Of Alabama Health Services Foundation, PC

619 19th St S, 
Birmingham, AL 
 (26.6 mi)
Languages Spoken:
English
Accepting New Patients

Lisa Willett is an Internal Medicine provider in Birmingham, Alabama. Dr. Willett and is rated as an Advanced provider by MediFind in the treatment of Acute Intermittent Porphyria. Her top areas of expertise are Acute Intermittent Porphyria, Heavy Metal Poisoning, Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH), and Hereditary Sensory Neuropathy Type 1 (HSN1). Dr. Willett is currently accepting new patients.

 
 
 
 
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Oncology | Hematology Oncology | Hematology
Oncology | Hematology Oncology | Hematology

Alabama Cancer Care, LLC

402 S 1st St, 
Gadsden, AL 
 (36.2 mi)
Languages Spoken:
English
Accepting New Patients

Laura Bunch is an Oncologist and a Hematologist Oncology provider in Gadsden, Alabama. Dr. Bunch and is rated as an Experienced provider by MediFind in the treatment of Acute Intermittent Porphyria. Her top areas of expertise are Colorectal Cancer, Familial Colorectal Cancer, Childhood Iron Deficiency Anemia, and Paget Disease of the Breast. Dr. Bunch is currently accepting new patients.

What are the latest Acute Intermittent Porphyria Clinical Trials?
Identification of Acute Intermittent Porphyria Modifying Genes

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.

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Longitudinal Study of the Porphyrias

Summary: The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center