Which of the following porphyria's best reflect this patient's symptoms and laboratory results?
A 42-year-old white South African male presents to his clinician experiencing acute neurological attacks and sensitivity of his skin to sunlight. The patient's urine showed PBGALA. Urine porphyrins analysis revealed elevation of urinary coproporphyrinogen III.

Question

Which of the following porphyria's best reflect this patient's symptoms and laboratory results?
A 42-year-old white South African male presents to his clinician experiencing acute neurological attacks and sensitivity of his skin to sunlight. The patient's urine showed PBG>ALA. Urine porphyrins analysis revealed elevation of urinary coproporphyrinogen III.

Quizplus · Accepted Answer

Variegate porphyria is characterized by both neurological symptoms and cutaneous photosensitivity, which aligns with the patient's presentation. The elevation of urinary coproporphyrinogen III and the fact that the patient is a white South African (where variegate porphyria is more common due to a founder effect) further support this diagnosis.

Which of the Following Porphyria's Best Reflect This Patient's Symptoms