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Summary
COPROPORPHYRIA, HEREDITARY (HCP)
COPROPORPHYRINOGEN OXIDASE DEFICIENCY
121300
OMIM = Online Medalian Inheritance of Men
79273
3q11.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • avoidance of precipitating factors
  • glucose infusion (acute)
  • hematin
rare
autosomal dominant
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
vomiting
laboratory finding
Sodium 135.00145.00decreasedserum
Porphyrins normal/increasedplasma
Porphyrins increasedurine
Porphyrins increasedfecal
Magnesium normal-decreasedplasma
Literature
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Arnoux JB,et al.Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuriaJ Inherit Metab Dis385791-7962015
Kim SM,Rhee JHA case of 17 alpha-hydroxylase deficiencyClin Exp Reprod Med42272-762015
Olpin SEet al.Features of carnitine palmitoyltransferase type I deficiencyJ Inherit Metab Dis24135-422001
Haworth JCet al.Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite familyJ Pediatr1214553-5571992
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992
Yamaguchi Net al.Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutationsHum Mutat192122-1302002