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Summary
PORPHYRIA CUTANEA TARDA, TYPE I (PCT)
176090
OMIM = Online Medalian Inheritance of Men
443057
  • avoidance of precipitating factors
  • chloroquine
  • phlebotomy
rare
autosomal dominant, multifactorial?
- type I (MIM 176090), sporadic type (most common)
- type II (MIM 176100), familial type
- type II ?
Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common [Handler NS et al. 2017]
symptoms
cirrhosis or fibrosis of liver
diabetes mellitus
heart involvement
hyperpigmentation
hypertrichosis
impaired visual acuity
liver involvement or dysfunction
photophobia or photosensitive defect in light-exposed area
skin defects
skin, abnormal
laboratory finding
Porphyrins increasedurine
Porphyrins increasedplasma
Uroporphyrinogen decarboxylase decreased activityerythrocytes
Porphyrins increasedfecal
Literature
Thalagahage KN,et al.Detection of alkaptonuria in a 1-week-old infantBMJ Case Rep201502015
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
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Houten SM,et al.Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemiaHum Mol Genet23185009-50162014
Hughes AT,et al.Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometryAnn Clin Biochem525597-6052015
Wang X,Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11+¦-hydroxylase deficiencySteroids100011-162015
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
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996