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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]
Psychiatric symptoms are present, such as paranoid schizophrenia-like features but rarely psychosis and hallucinations. [4] The acute attacks classically present with dark-red photosensitive urine (often called port-wine urine), but this is a nonspecific symptom. [12] Physical examination often shows no abnormalities. [13]
When symptoms occur, they can include acute attacks (similar to acute intermittent porphyria) or skin damage. Acute attacks usually begin in adulthood and cause abdominal pain, vomiting, diarrhoea and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations.
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
Psychomotor agitation is typically found in various mental disorders, especially in psychotic and mood disorders. It can be a result of drug intoxication or withdrawal. It can also be caused by severe hyponatremia. People with existing psychiatric disorders and men under the age of 40 are at a higher risk of developing psychomotor agitation. [2]
Additionally, mental status examination using questionnaires [13] and three diagnostic tests are taken, including drawing a clock-face, [14] The Face-Hand test [15] and Hidden figures tests. [16] Patients with Bell's mania tend to make obvious mistakes in these tests, for instance drawing a clock-face with incorrect numbering or missing clock ...