{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T14:10:06Z","timestamp":1789827006138,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T00:00:00Z","timestamp":1749427200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T00:00:00Z","timestamp":1749427200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first\u2010degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>149 first\u2010degree relatives of confirmed AHP patients, previously unscreened for the family mutation, were recruited. All underwent genetic analysis, with 143 completing a study questionnaire and 118 undergoing urine analysis for delta aminolevulinic acid (ALA) and porphobilinogen (PBG). The questionnaire focused on symptoms, medical and family history, and quality of life.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The study included 79 AHP mutation carriers and 70 non\u2010carriers. Carriers had significantly higher ALA (6.98 vs. 2.21\u2009mg\/g creatinine) and PBG levels (9.17 vs. 1.31\u2009mg\/g creatinine) than non\u2010carriers. Female carriers showed higher ALA (9.29 vs. 3.07\u2009mg\/g creatinine) and PBG levels (12.71 vs. 3.16\u2009mg\/g creatinine) than male carriers. Porphyria\u2010related symptoms were reported by 27% (21\/77) of carriers compared to 15% (10\/66) of non\u2010carriers, with carriers more likely to report dark urine and prolonged symptoms. Finally, 30.8% of carriers were asymptomatic high excreters (ASHE) with PBG levels exceeding four times the upper limit of normal (ULN).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Significant differences in porphyrin precursor excretion and symptom profiles were found between AHP mutation carriers and controls, as well as between female and male carriers. Female carriers are more likely to excrete porphyrin metabolites above the normal range. A larger than expected number of undiagnosed carriers are ASHE with levels greater than four times the ULN.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/liv.70156","type":"journal-article","created":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T03:53:45Z","timestamp":1749441225000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8101-9007","authenticated-orcid":false,"given":"Mohsen","family":"Merati","sequence":"first","affiliation":[{"name":"Division of Gastroenterology, Department of Medicine University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanditha","family":"Jayakumar","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Department of Medicine University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuvraaj","family":"Kapoor","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Department of Medicine University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hetanshi","family":"Naik","sequence":"additional","affiliation":[{"name":"The Porphyrias Consortium  New York New York USA"},{"name":"Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8047-5011","authenticated-orcid":false,"given":"Manisha","family":"Balwani","sequence":"additional","affiliation":[{"name":"The Porphyrias Consortium  New York New York USA"},{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl E.","family":"Anderson","sequence":"additional","affiliation":[{"name":"The Porphyrias Consortium  New York New York USA"},{"name":"Department of Preventive Medicine and Population Health University of Texas Medical Branch Galveston  Galveston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert L.","family":"Bonkovsky","sequence":"additional","affiliation":[{"name":"The Porphyrias Consortium  New York New York USA"},{"name":"Section of Gastroenterology and Hepatology Wake Forrest University School of Medicine  Winston Salem North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[{"name":"The Porphyrias Consortium  New York New York USA"},{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"McGuire","sequence":"additional","affiliation":[{"name":"The Porphyrias Consortium  New York New York USA"},{"name":"Department of Medicine University of Alabama Birmingham  Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-1678","authenticated-orcid":false,"given":"John","family":"Phillips","sequence":"additional","affiliation":[{"name":"The Porphyrias Consortium  New York New York USA"},{"name":"Department of Internal Medicine University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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