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  2. Acute intermittent porphyria - Wikipedia

    en.wikipedia.org/wiki/Acute_intermittent_porphyria

    Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias. [1] [2] [3]

  3. Porphyria - Wikipedia

    en.wikipedia.org/wiki/Porphyria

    Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]

  4. Porphobilinogen deaminase - Wikipedia

    en.wikipedia.org/wiki/Porphobilinogen_deaminase

    The most well-known health issue involving porphobilinogen deaminase is acute intermittent porphyria, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme.

  5. Alnylam Provides Key 2013 - 2014 Goals for RNAi Therapeutics ...

    www.aol.com/news/2013-01-06-alnylam-provides-key...

    Acute intermittent porphyria (AIP) is an ultra-rare autosomal dominant disease caused by loss of function mutations in porphobilinogen deaminase (PBGD), an enzyme in the heme biosynthesis pathway ...

  6. Psychomotor agitation - Wikipedia

    en.wikipedia.org/wiki/Psychomotor_agitation

    Acute intermittent porphyria [5] [verification needed] Hereditary coproporphyria; Variegate porphyria; Side effects of stimulants such as cocaine or methylphenidate; Side effects of antipsychotics like haloperidol; SSRI or SNRI medications; As explained in a 2008 study, in people with mood disorders there is a dynamic link between their mood ...

  7. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    acute intermittent porphyria; Disorders of purine or pyrimidine metabolism Lesch–Nyhan syndrome; AMPD1 Deficiency (MADD) Disorders of steroid metabolism lipoid congenital adrenal hyperplasia; congenital adrenal hyperplasia; Disorders of mitochondrial function Kearns–Sayre syndrome; Disorders of peroxisomal function Zellweger syndrome ...

  8. List of abbreviations for diseases and disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_abbreviations_for...

    Acute intermittent porphyria: ALA DD Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) ALD Alcoholic liver disease: ALI Acute lung injury: ALL Acute lymphoblastic lymphoma, acute lymphocytic leukemia: ALS Amyotrophic lateral sclerosis: AMD Age-related macular degeneration: AML Acute myelogenous ...

  9. This Family Drives 350 Miles For What Could Be A Common ...

    projects.huffingtonpost.com/dying-to-be-free...

    Toby Fischer lives in South Dakota, where just 27 doctors are certified to prescribe buprenorphine -- a medication that blunts the symptoms of withdrawal from heroin and opioid painkillers. A Huffington Post analysis of government data found nearly half of all counties in America don't have such a certified physician. So every month, Fischer and his mother drive to Colorado to pick up their ...