All subjects must also be enrolled in the Longitudinal Study of the Porphyrias. As in the Longitudinal Study (IRB 45117), the inclusion criteria are based on 1) clinical features, 2) biochemical findings, as documented by laboratory reports (or copies) or porphyria-specific testing performed after 1980, and 3) molecular findings documenting the identification of a mutation in a porphyria-related gene. In addition, an individual or a parent or guardian must be willing to give written informed consent or assent, as appropriate.
1.) Clinical Features - a history of non-blistering cutaneous photosensitivity or a diagnosis of EPP or XLP in a relative
2.) Biochemical findings - a marked increase in erthrocyte protoporphyrin with a predominance of free protoporphyrin, increased plasma porphyrins in almost all cases and a fluoresence emission peak at ~634 nm, and normal urinary porphyrins and normal ALA and PBG.
3.) Molecular Findings - a disease causing FECH mutation trans to the IVS3-48C>T low expression FECH allele OR two disease-causing FECH mutations OR a gain-of-function ALAS-2 C-terminal deletion/exon 11 mutation (in XLP).