Which symptom is NOT associated with acute intermittent porphyria?

Which symptom is NOT associated with acute intermittent porphyria?

• A. Burgundy-colored urine
• B. Cutaneous photosensitivity
• C. Abdominal pain
• D. Neurological disturbances

Answer: (B)

Acute intermittent porphyria (AIP) is a genetic condition characterized by a deficiency of the enzyme porphobilinogen deaminase in the heme biosynthetic pathway. This deficiency leads to the accumulation of porphobilinogen and other intermediates in the liver, which are then excreted in the urine. Symptoms of this condition typically manifest during acute attacks and can include significant abdominal pain, neurological disturbances such as anxiety, confusion, and peripheral neuropathy, and burgundy-colored urine due to the presence of porphyrins. The presence of cutaneous photosensitivity, in contrast, is characteristic of other types of porphyrias, such as porphyria cutanea tarda, but is not associated with acute intermittent porphyria. AIP primarily presents with neurovisceral symptoms rather than skin manifestations. Therefore, the symptom that is not associated with acute intermittent porphyria is cutaneous photosensitivity. Understanding the distinct clinical features of different types of porphyrias is crucial for proper diagnosis and management.

Acute intermittent porphyria (AIP) is a genetic condition characterized by a deficiency of the enzyme porphobilinogen deaminase in the heme biosynthetic pathway. This deficiency leads to the accumulation of porphobilinogen and other intermediates in the liver, which are then excreted in the urine. Symptoms of this condition typically manifest during acute attacks and can include significant abdominal pain, neurological disturbances such as anxiety, confusion, and peripheral neuropathy, and burgundy-colored urine due to the presence of porphyrins.

The presence of cutaneous photosensitivity, in contrast, is characteristic of other types of porphyrias, such as porphyria cutanea tarda, but is not associated with acute intermittent porphyria. AIP primarily presents with neurovisceral symptoms rather than skin manifestations. Therefore, the symptom that is not associated with acute intermittent porphyria is cutaneous photosensitivity. Understanding the distinct clinical features of different types of porphyrias is crucial for proper diagnosis and management.