Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085631 (agitation)
 12,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma. Some patients develop psychosis similar to schizophrenia. Psychiatric hospitals have a disproportionate number of patients with this disorder as only difficult and resistant patients accumulate there. Presence of photosensitive porphyrins in the urine is diagnostic. When porphyrins are absent, excess of alpha aminolevulinic acid and porphobilinogen are present in the urine. The definitive test is to measure monopyrrole porphobilinogen deaminase in RBCs. This diagnosis should be entertained in the following situations: (a) unexplained leukocytosis; (b) unexplained neuropathy; (c) etiologically obscure neurosis or psychosis; (d) 'idiopathic' seizure disorder; (e) unexplained abdominal pain; (f) conversion hysteria, and (g) susceptibility to stress. Porphyria is important in psychiatry as it may present with only psychiatric symptoms; it may masquerade as a psychosis and the patient may be treated as a schizophrenic person for years; the only manifestation may be histrionic personality disorder which may not receive much attention. Diagnosis is based on a high index of suspicion and appropriate investigation. Various psychotropic drugs exacerbate acute attacks. While it is important not to use the unsafe drugs in porphyric patients, it is also imperative to look for this diagnosis in cases where these drugs produce unprecedented drug reactions.
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PMID:Porphyria: reexamination of psychiatric implications. 865 42

Historical evidence has been collected attempting to diagnose members of royal houses, perhaps most publicized by Macalpine and Hunter (1969) for George III and his assumed porphyria, claiming that his insanity was a classic case of thereof. This rare metabolic disease presents with a variety of signs and symptoms: skin disease, abdominal pain, tachycardia, and neuro-psychiatric findings. The porphyrias are hereditary and since George III and Frederick William I share ancestors it seemed reasonable to investigate if the latter may also have suffered from porphyria. The pathography of both kings is meticulous, showing for both that abdominal pain, erratic behavior, restlessness, and discolored urine were frequently observed and complete recovery interictally was common. Intercurrent illnesses, fasting, alcohol and even tobacco smoking have been shown to be inducers of attacks and these risk factors are well documented in royal history.--The diagnosis of porphyria was not recognized then and other names were used, such as Cachexia hypochondriaca, Asthma spasmodico flatulentum, dolores arthritici.--We propose that Frederick William I suffered from an inducible porphyria.
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PMID:[Friedrich Wilhelm I and porphyria]. 1047 52

A 22-year-old woman was admitted to intensive care with severe hyponatraemia. She suffered from lower abdominal pain, vomiting and irritability since one week. Physical findings showed euvolemia and an altered mental status with severe agitation and slurred speech. Abdominal examination was painful but there were no signs of peritonitis. Laboratory data were compatible with the diagnosis of syndrome of inappropriate secretion of antidiuretic hormone. Since patient was in a premenstrual phase, recently started to take an oral contraceptive and since no abnormalities were seen on an abdominal CT scan, the presentation was considered suggestive of an acute porphyria attack. A urinary sample indicated markedly increased levels of delta-aminolevulinic acid, porphobilinogen and uroporphyrin. A low activity of the porphobilinogen deaminase enzyme confirmed the diagnosis of acute intermittent porphyria. The present case demonstrates the need for a high level of suspicion in order to diagnose this disorder in unexplained syndrome of inappropriate antidiuretic hormone secretion and prevent life-threatening complications.
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PMID:An unusual cause of syndrome of inappropriate antidiuretic hormone secretion. 1904 8