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Reduced uroporphyrinogen decarboxylase activity

MedGen UID:
1842076
•Concept ID:
C5826607
•
Finding
HPO: HP:0034715

Definition

Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced uroporphyrinogen decarboxylase activity

Conditions with this feature

Familial porphyria cutanea tarda
MedGen UID:
75669
•Concept ID:
C0268323
•
Disease or Syndrome
Familial porphyria cutanea tarda (F-PCT) is characterized by: skin findings including blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and an increased risk for hepatocellular carcinoma (HCC).
See: Condition Record
Familial porphyria cutanea tarda

Professional guidelines

PubMed

The effects of chronic carbamazepine treatment of haem biosynthesis in man and rat.
McGuire GM, Macphee GJ, Thompson GG, Park BK, Moore MR, Brodie MJ
Eur J Clin Pharmacol 1988;35(3):241-7. doi: 10.1007/BF00558260. PMID: 3181278

Recent clinical studies

Etiology

Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Hepatitis C, porphyria cutanea tarda and liver iron: an update.
Ryan Caballes F, Sendi H, Bonkovsky HL
Liver Int 2012 Jul;32(6):880-93. Epub 2012 Apr 17 doi: 10.1111/j.1478-3231.2012.02794.x. PMID: 22510500Free PMC Article
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C
Clin Genet 2009 Apr;75(4):346-53. doi: 10.1111/j.1399-0004.2009.01153.x. PMID: 19419417Free PMC Article
Decreased uroporphyrinogen decarboxylase activity in patients with end-stage renal disease undergoing hemodialysis.
Mamet R, Gafter U, Korzets A, Schoenfeld N
Nephron 1995;70(2):202-6. doi: 10.1159/000188584. PMID: 7566304
Hematologic and hepatic manifestations of the cutaneous porphyrias.
Pimstone NR
Clin Dermatol 1985 Apr-Jun;3(2):83-102. doi: 10.1016/0738-081x(85)90035-5. PMID: 3916835

Diagnosis

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):363-366. Epub 2018 Nov 28 doi: 10.1016/j.ymgme.2018.11.013. PMID: 30514647Free PMC Article
Genetic aspects of porphyria cutanea tarda.
Lambrecht RW, Thapar M, Bonkovsky HL
Semin Liver Dis 2007 Feb;27(1):99-108. doi: 10.1055/s-2006-960173. PMID: 17295179
Hemochromatosis and porphyria.
Lambrecht RW, Bonkovsky HL
Semin Gastrointest Dis 2002 Apr;13(2):109-19. PMID: 12064861
Hematologic and hepatic manifestations of the cutaneous porphyrias.
Pimstone NR
Clin Dermatol 1985 Apr-Jun;3(2):83-102. doi: 10.1016/0738-081x(85)90035-5. PMID: 3916835
Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria.
Felsher BF, Norris ME, Shih JC
N Engl J Med 1978 Nov 16;299(20):1095-8. doi: 10.1056/NEJM197811162992002. PMID: 703786

Therapy

Hepatitis C, porphyria cutanea tarda and liver iron: an update.
Ryan Caballes F, Sendi H, Bonkovsky HL
Liver Int 2012 Jul;32(6):880-93. Epub 2012 Apr 17 doi: 10.1111/j.1478-3231.2012.02794.x. PMID: 22510500Free PMC Article
A mouse model of familial porphyria cutanea tarda.
Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, Andrews NC, Kushner JP
Proc Natl Acad Sci U S A 2001 Jan 2;98(1):259-64. doi: 10.1073/pnas.98.1.259. PMID: 11134514Free PMC Article
Haem biosynthesis and human porphyria cutanea tarda: effects of alcohol intake.
Mukerji SK
Indian J Exp Biol 2000 Jul;38(7):635-42. PMID: 11215304
Altered activity of heme biosynthesis pathway enzymes in individuals chronically exposed to arsenic in Mexico.
Hernández-Zavala A, Del Razo LM, García-Vargas GG, Aguilar C, Borja VH, Albores A, Cebrián ME
Arch Toxicol 1999 Mar;73(2):90-5. doi: 10.1007/s002040050592. PMID: 10350189
Porphyria cutanea tarda.
Fritsch C, Lang K, von Schmiedeberg S, Bolsen K, Merk H, Lehmann P, Ruzicka T
Skin Pharmacol Appl Skin Physiol 1998 Nov-Dec;11(6):321-35. doi: 10.1159/000029855. PMID: 10343203

Prognosis

Hepatitis C, porphyria cutanea tarda and liver iron: an update.
Ryan Caballes F, Sendi H, Bonkovsky HL
Liver Int 2012 Jul;32(6):880-93. Epub 2012 Apr 17 doi: 10.1111/j.1478-3231.2012.02794.x. PMID: 22510500Free PMC Article
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C
Clin Genet 2009 Apr;75(4):346-53. doi: 10.1111/j.1399-0004.2009.01153.x. PMID: 19419417Free PMC Article
Genetic aspects of porphyria cutanea tarda.
Lambrecht RW, Thapar M, Bonkovsky HL
Semin Liver Dis 2007 Feb;27(1):99-108. doi: 10.1055/s-2006-960173. PMID: 17295179
Development of porphyria cutanea tarda after treatment with cyclophosphamide.
Manzione NC, Wolkoff AW, Sassa S
Gastroenterology 1988 Oct;95(4):1119-22. doi: 10.1016/0016-5085(88)90191-6. PMID: 3410226

Clinical prediction guides

Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C
Clin Genet 2009 Apr;75(4):346-53. doi: 10.1111/j.1399-0004.2009.01153.x. PMID: 19419417Free PMC Article
Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme.
Thunell S, Harper P
Scand J Clin Lab Invest 2000 Nov;60(7):561-79. PMID: 11202050
Decreased uroporphyrinogen decarboxylase activity in patients with end-stage renal disease undergoing hemodialysis.
Mamet R, Gafter U, Korzets A, Schoenfeld N
Nephron 1995;70(2):202-6. doi: 10.1159/000188584. PMID: 7566304
Organ porphyrins and uroporphyrinogen decarboxylase activity in a case of non-functioning adrenocortical carcinoma.
Zawirska B
Mater Med Pol 1990 Apr-Jun;22(2):79-81. PMID: 2102982

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