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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 .
Central obesity/ Cervical fat pads/ Collagen fiber weakness/ Comedones (acne) Urinary free corisol and glucose increase Striae/ Suppressed immunity Hypercortisolism/ Hypertension/ Hyperglycemia/ Hirsutism Iatrogenic (Increased administration of corticosteroids) Noniatrogenic (Neoplasms) Glucose intolerance/Growth retardation
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.
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]
Hepatic porphyrias is a form of porphyria in which toxic porphyrin molecules build up in the liver. Hepatic porphyrias can result from a number of different enzyme deficiencies. [1] Examples include (in order of synthesis pathway): [citation needed] Acute intermittent porphyria; Porphyria cutanea tarda and Hepatoerythropoietic porphyria
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Signs and symptoms [ edit ] Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence.
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