Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.5.1.61 (porphobilinogen deaminase)
 637 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.
 ...
PMID:Porphyria: reexamination of psychiatric implications. 865 42

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.
 ...
PMID:An unusual cause of syndrome of inappropriate antidiuretic hormone secretion. 1904 8