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Summary
PORPHYRIA VARIEGATA
VARIEGATE PORPHYRIA VP
176200
OMIM = Online Medalian Inheritance of Men
79473
1q23.3, 6p22.2
  • avoidance of precipitating factors
  • avoidance of specific drugs
  • dextrose
  • hematin
  • heme analogs, synthetic
rare
autosomal dominant
symptoms
coma
constipation
hypertension
ileus
nausea
pain, abdominal
pain, muscle
peripheral neuropathy
photophobia or photosensitive defect in light-exposed area
psychosis
red colored urine
seizures
skin defects
tachykardia
vomiting
laboratory finding
Sodium 135.00145.00decreasedserum
Porphyrins increasedplasma
Porphyrins increasedurine
Porphyrins increasedfecal
Porphobilinogen 8.80increasedurine
5-Aminolevulinic acid0.000.000.0019.00increasedurinenewborn
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
Kemppainen Ret al.Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reactionArch Biochem Biophys3280101-1061996
Diasio RBBeavers TL, Carpenter JTFamilial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicityJ Clin Invest81047-511988
Berger Ret al.Dihydropyrimide dehydrogenase deficiency leading to thymine-uraciluria: an inborn error of pyrimidine metabolismClin Chim Acta1410227-2341984
Ades LCet al.Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28Am J Med Genet453327-3341993
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
Berkovic SFet al.Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20Arch Neurol5101125-11281994
Polat S,et al.Characterisation of three novel CYP11B1 mutations in classic and non-classic 11+ƒ-hydroxylase deficiencyEur J Endocrinol1705697-7062014
Brockstedt Met al.A new case of dihydropyrimidine dehydrogenase deficiencyJ Inherit Metab Dis130124-1241990