Variegate Porphyria
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Overview
From WUSTL Neuromuscular● PPOX location: Mitochondrial intermembrane space Clinical features Acute attacks & Neuropathy Features similar to Acute Intermittent porphyria Skin photosensitivity Frequent in South Africa due to a founder effect Laboratory features Elevated fecal coproporphyrin & protoporphyrin between attacks
OMIM Entries
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.