INSTRUCTIONS
Acute Intermitted Porphyria Discussion
Acute intermitted porphyria is a metabolic disorder that affects the production of heme coming up from a deficiency of porphobilinogen deaminase enzymes. It is mostly associated with the liver. This disease is caused by a low level of porphobilinogen deaminase enzymes called hydroxymethylbilane synthase and a combination of a genetic enzyme defect (Lindberg, et al., 2019). It therefore causes severe pain in the abdomen part, chest, legs, constipation or diarrhea, blood in urine, vomiting, and high blood pressure. This disease occurs in the heme biosynthetic pathway when there is not enough production of hydroxymethylbilane synthase enzymes in the pathway thus not enough heme production causing accumulation of metabolites.
This disease symptom includes abdominal pain which is associated with nausea and may at times be severe as the main symptom thus it is an acute condition. The second symptom is Urinary track issues like urinary retention and urinary incontinence among the affected hence becoming a chronic condition. Thirdly, Gastrointestinal issues like vomiting, nausea, and constipation is an acute symptom of this kind of disease (Linenberger & Fertrin,, 2020). Moreover, psychiatric issues like insomnia, anxiety, depression, agitation, and phobias also serve as acute condition symptoms of the disease. Finally, neurological issues like muscle weakness in arms and maybe legs serve as an acute condition symptom of the disease. The disease is typically present in adulthood, often in reproduction age group women, limited in children and more pediatric male adult cases.
The disease is diagnosed by suspecting the individual with unexplained severe, acute abdominal pain without any physical signs. The abnormal lab test is the demonstration of increased urinary porphobilinogen secretion where if the patient has no increased porphobilinogen acute porphyria is eliminated and porphyrin precursor is not included in the urine porphyrin screen.
REFERENCES
Lindberg, R., Porcher, C., Grandchamp, B., Ledermann, B., Bürki, K., Brandner, S., & Meyer, U. (2019). Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nature genetics, 12(2), 195-199.
Linenberger, M., & Fertrin,, K. (2020). Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP. Hematology 2014, the American Society of Hematology Education Program Book, 2020(1), 400-410.