Porphobilinogen, Quantitative

Porphobilinogen, Quantitative test helps detect acute porphyrias such as acute intermittent porphyria (AIP). AIP is an autosomal dominant disorder caused by sudden changes (mutations) in porphobilinogen deaminase (PBGD), an enzyme that helps in hemoglobin formation. An acute attack usually presents with symptoms suggestive of gastrointestinal disturbances, such as abdominal pain, nausea, and vomiting along with occasional neuropsychiatric manifestations like peripheral neuropathy, and seizures. A few other symptoms that may be experienced include increased heart rate (tachycardia), dark-colored urine, etc. These symptoms may get precipitated by the use of certain medicines, infections, alcohol, infections, low caloric intake, reproductive hormone changes, etc. Avoiding precipitating factors and regular monitoring are some ways to prevent acute attacks of AIP.