Which condition is associated with a deficiency in uroporphyrinogen I synthase?

The condition associated with a deficiency in uroporphyrinogen I synthase is acute intermittent porphyria (AIP). This disorder is part of a group known as the porphyrias, which are a series of diseases that result from deficiencies in enzymes involved in heme production. Uroporphyrinogen I synthase is the second enzyme in the heme biosynthetic pathway, and its deficiency leads to the accumulation of porphyrin precursors, which can result in various neurological and gastrointestinal symptoms.

Patients with acute intermittent porphyria often experience intermittent attacks characterized by abdominal pain, neuropsychiatric symptoms, and sometimes seizures. The deficiency of uroporphyrinogen I synthase specifically results in the accumulation of porphyrin precursors such as porphobilinogen and δ-aminolevulinic acid, which contribute to the symptoms and may lead to acute episodes of pain and dysfunction.

Other conditions mentioned do not involve a deficiency in uroporphyrinogen I synthase. Lead poisoning typically affects heme synthesis by inhibiting multiple enzyme activities, particularly those involved in the earlier steps of heme synthesis (such as delta-aminolevulinic acid dehydratase). Gilbert's disease and Cr