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Summary
PORPHYRIA CUTANEA TARDA, TYPE II (HEP)
HEPATOERYTHROPOIETIC PORPHYRIA
176100
OMIM = Online Medalian Inheritance of Men
101330
1q34.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • avoidance of specific drugs
  • avoidance of sunlight
  • chloroquine
very rare
autosomal dominant
autosomal recessive
- type I (MIM 176090), sporadic type
- type II (MIM 176100), familial type
indistinguishable from from congenital erythropoietic porphyria There is an association of PCT with haemochromatosis, diabetes mellitus and hepatitis C infection [Kostler 2005]
symptoms
alopecia
anemia
cirrhosis or fibrosis of liver
erythrodontia
hyperpigmentation
hypertrichosis
onset, adulthood
onset, childhood
onset, infancy
photophobia or photosensitive defect in light-exposed area
red colored urine
skin defects
splenomegaly (large spleen)
laboratory finding
Porphyrins increasedurine
Porphyrins increasedplasma
Porphyrins increasederythrocytes
Uroporphyrinogen decarboxylase decreased activityerythrocytes
Porphyrins increasedfecal
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
Gempel Ket al.Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometryJ Inherit Metab Dis25117-272002
Menabo S,et al.Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutationsEur J Hum Genet225610-6162014
Olpin SEet al.Features of carnitine palmitoyltransferase type I deficiencyJ Inherit Metab Dis24135-422001
Lamhonwah AMet al.Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathyAm J Med Genet1113271-2842002
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
Davison AS,et al.Acute fatal metabolic complications in alkaptonuriaJ Inherit Metab Dis002015
Vianey-Saban Cet al.Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemiaEur J Pediatr1524334-3381993