Chronic Intermittent Porphyri What Is It And How It Treated? Essay

1291 Words Sep 20th, 2016 6 Pages
Acute Intermittent Porphyria:
What is it and how is it Treated?
Many diseases are diagnosed and monitored through urine, including the commonly discussed kidney disease and diabetes. There are many other diseases that are diagnosable through urine. Urine is an exceptionally good source to diagnose diseases from patients, as the majority of patients are able to produce urine constantly. Urine can be used to diagnose pregnancy, proteinuria, hematuria, and enzyme deficiencies in heme production. Heme is the nonprotein part of hemoglobin that contains iron. The accurate production and function of heme is essential for red blood cells to accurately carry oxygen to organs and tissues throughout the entire body. There are many different classifications of heme deficiencies, also known as porphyria. The point in the heme cycle that is deficient determines the designation of the disease state. Acute intermittent porphyria, also known as acute hepatic porphyria, falls into this category of diseases. The American Porphyria foundation defines acute intermittent porphyria (AIP) as an autosomal dominant, enzyme deficiency in heme synthesis, particularly porphobilinogen deaminase (PBGD), combined with other contributing factors (Acute Intermittent Porphyria, n.d.). While only five to ten people out of 100,000 are affected by acute intermittent porphyria, understanding the disease may allow for genetic insight on how to treat and prevent heme deficiencies (Bissell, Wang. 2015).…

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