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harderoporphyria
variant form of hereditary coproporphyria
Genetics:
- associated with defects in CPOX
- may be due to homozygous defect in CPOX [2]
Clinical manifestations:
- severe variant form of hereditary coproporphyria
- earlier onset attacks Labatoratory:
- fecal harderoporphyrin
- massive excretion of harderoporphyrin in feces
- marked decrease of coproporphyrinogen IX oxidase activity
General
hereditary coproporphyria
References
- Nordmann Y et al
Harderoporphyria: a variant hereditary coproporphyria.
J Clin Invest. 1983 September; 72(3): 1139-1149
PMID: 6886003
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1129282/
- Hasanoglu A et al
Harderoporphyria due to homozygosity for coproporphyrinogen
oxidase missense mutation H327R.
J Inherit Metab Dis. 2011 Feb;34(1):225-31. Epub 2010 Nov 20.
PMID: 21103937