What is COPROPORPHYRIA, HEREDITARY (HCP)?

rare autosomal dominant mutation in the CPOX gene

Which enzymes are involved?

Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial

Disease	COPROPORPHYRIA, HEREDITARY (HCP)
Synonym	COPROPORPHYRINOGEN OXIDASE DEFICIENCY
OMIM	121300 OMIM = Online Mendelian Inheritance of Men
Orphanet	79273
Protein (UniProt)	Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
ExPASy	1.3.3.3
Gene locus	3q11.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Coproporphyrinogen oxidase
ICD	E80.2
Summary	rare autosomal dominant mutation in the CPOX gene
Laboratory findings	Porphobilinogen (PBG) inc (urine) Magnesium normal/dec (plasma) Porphyrins inc (fecal) Porphyrins normal/inc (plasma) Porphyrins inc (urine) Sodium dec (serum)
Symptoms	behavior, anxiety coma constipation hepatomegaly (large liver) hypertension ileus jaundice nausea onset, adolescent onset, neonatal pain, abdominal pain, muscle peripheral neuropathy photophobia or photosensitive defect in light-exposed area red colored urine seizures skin defects splenomegaly (large spleen) tachykardia urine color, abnormal vomiting