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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MeSH
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 -