We have a probable case of erythropoietic protoporphyria in an adult with photosensitivity and ulceration and high blood porphyrins (106 ug/dl; NR<36) (with normal urine and faecal porphyrins). Fluorescence emission spectrophotometry of plasma shows a peak at 631nm: we are taking steps to exclude this being zinc protoporphyrin (although the latter would not be expected to cause photosensitivity).
We are keen to consider undertaking FERROCHELATASE assay in this case and possibly in immediate family members. Does anybody in the global community offer this assay or have expertise that they would be willing to share ?
Dr Chris Florkowski
Christchurch, NZ
**********************************************************************
This email and any files transmitted with it are confidential and
intended solely for the use of the individual or entity to whom they
are addressed. If you have received this email in error please notify
the system manager.
This footnote also confirms that this email message has been swept by
MIMEsweeper for the presence of computer viruses.
www.mimesweeper.com
**********************************************************************
------ACB discussion List Information--------
This is an open discussion list for the academic and clinical
community working in clinical biochemistry.
Please note, archived messages are public and can be viewed
via the internet. Views expressed are those of the individual and
they are responsible for all message content.
ACB Web Site
http://www.acb.org.uk
List Archives
http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
List Instructions (How to leave etc.)
http://www.jiscmail.ac.uk/
|