Porphobilinogen Deaminase (PBGD), Whole Blood Clinical
Information Discusses physiology, pathophysiology, and general
clinical aspects, as they relate to a laboratory test Acute
intermittent porphyria (AIP) is caused by diminished erythrocyte
activity of porphobilinogen deaminase (PBGD), also known as
uroporphyrinogen I synthase or hydroxymethylbilane synthase.
Onset of AIP typically occurs during puberty or later.
Individuals may experience acute episodes of neuropathic
symptoms. Common symptoms include severe abdominal pain,
peripheral neuropathy, and psychiatric symptoms. A broad range
of medications (including barbiturates and sulfa drugs),
alcohol, infection, starvation, heavy metals, and hormonal
changes may precipitate crises. AIP is inherited in an autosomal
dominant manner. At-risk family members of patients with a
biochemical diagnosis of AIP should undergo appropriate testing.
Timely diagnosis is important as acute episodes of AIP can be
fatal. Treatment of AIP includes the prevention of symptoms t