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Article

Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).

Translational research : the journal of laboratory and clinical medicine - 1 Feb 2007

Phillips John D, Whitby Frank G, Stadtmueller Beth M, Edwards Corwin Q, Hill Christopher P, Kushner James P

Abstract excerpt

Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria in humans. The disorder is caused by homozygosity or compound heterozygosity for mutations of the uroporphyrinogen decarboxylase (URO-D) gene. Subnormal URO-D activity results in accumulation of uroporphyrin in the liver, which ultimately mediates the photosensitivity that clinically characterizes HEP. Two previously undescribed URO-D mutations...

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Identifiers

PMID: 17240319
DOI: 10.1016/j.trsl.2006.08.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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