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Summary
HEREDITARY COPROPORPHYRIA (HCP)
COPROPORPHYRIA PORPHYRIA, COPROPORPHYRIA
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
coma
constipation
hypertension
ileus
nausea
pain, abdominal
pain, muscle
peripheral neuropathy
photophobia or photosensitive defect in light-exposed area
red colored urine
seizures
skin defects
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
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