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Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
Br J Dermatol. 2004 Oct; 151(4):920-3.BJ

Abstract

Hepatoerythropoietic porphyria (HEP) is an uncommon inherited cutaneous porphyria, related to porphyria cutanea tarda, that results from severe uroporphyrinogen decarboxylase (UROD) deficiency. It is characterized clinically by the onset in early childhood of severe lesions on sun-exposed skin. We describe a man aged 38 years with an unusually mild form of the disease that started in his early teens. Our data confirm that homozygosity for the F46L mutation in the UROD gene causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates.

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Authors+Show Affiliations

Armstrong DK
Clinical Biochemistry, Craigavon Area Hospital, Craigavon, Co Armagh, UK.
Sharpe PC
No affiliation info available
Chambers CR
No affiliation info available
Whatley SD
No affiliation info available
Roberts AG
No affiliation info available
Elder GH
No affiliation info available

MeSH

AdultHomozygoteHumansMaleMutation, MissensePorphyria, HepatoerythropoieticPorphyrinsUroporphyrinogen Decarboxylase

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15491440

Citation

Armstrong, D K B., et al. "Hepatoerythropoietic Porphyria: a Missense Mutation in the UROD Gene Is Associated With Mild Disease and an Unusual Porphyrin Excretion Pattern." The British Journal of Dermatology, vol. 151, no. 4, 2004, pp. 920-3.
Armstrong DK, Sharpe PC, Chambers CR, et al. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol. 2004;151(4):920-3.
Armstrong, D. K., Sharpe, P. C., Chambers, C. R., Whatley, S. D., Roberts, A. G., & Elder, G. H. (2004). Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. The British Journal of Dermatology, 151(4), 920-3.
Armstrong DK, et al. Hepatoerythropoietic Porphyria: a Missense Mutation in the UROD Gene Is Associated With Mild Disease and an Unusual Porphyrin Excretion Pattern. Br J Dermatol. 2004;151(4):920-3. PubMed PMID: 15491440.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. AU - Armstrong,D K B, AU - Sharpe,P C, AU - Chambers,C R, AU - Whatley,S D, AU - Roberts,A G, AU - Elder,G H, PY - 2004/10/20/pubmed PY - 2005/2/8/medline PY - 2004/10/20/entrez SP - 920 EP - 3 JF - The British journal of dermatology JO - Br. J. Dermatol. VL - 151 IS - 4 N2 - Hepatoerythropoietic porphyria (HEP) is an uncommon inherited cutaneous porphyria, related to porphyria cutanea tarda, that results from severe uroporphyrinogen decarboxylase (UROD) deficiency. It is characterized clinically by the onset in early childhood of severe lesions on sun-exposed skin. We describe a man aged 38 years with an unusually mild form of the disease that started in his early teens. Our data confirm that homozygosity for the F46L mutation in the UROD gene causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates. SN - 0007-0963 UR - https://www.unboundmedicine.com/medline/citation/15491440/Hepatoerythropoietic_porphyria:_a_missense_mutation_in_the_UROD_gene_is_associated_with_mild_disease_and_an_unusual_porphyrin_excretion_pattern_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-0963&date=2004&volume=151&issue=4&spage=920 DB - PRIME DP - Unbound Medicine ER -