{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:40:02Z","timestamp":1756363202517,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Pompe disease is characterised by deficiency of acid \u03b1-glucosidase that results in abnormal glycogen deposition in the muscles. Alkaptonuria is caused by a defect in the enzyme homogentisate 1,2-dioxygenase with subsequent accumulation of homogentisic acid. We report the case of a 6-year-old boy diagnosed with Pompe disease and alkaptonuria. Urine organic acids and \u03b1-glucosidase were measured. Homogentisate 1,2-dioxygenase (HGO) and acid alpha-glucosidase (GAA) genes were sequenced by Sanger DNA sequencing. The level of \u03b1-glucosidase in white blood cells was markedly decreased (4\u2005nm\/mg) while the level of homogentisic acid was markedly increased (15\u2005027\u2005mmol\/mol creatine). GAA sequencing detected two heterozygous GAA mutations (C.670C&gt;T and C.1064T&gt;C) while HGO sequencing revealed three polymorphisms in exons 4, 5 and 6, respectively. To the best of our knowledge, this is the first reported instance of Pompe disease and alkaptonuria occurring in the same individual.<\/jats:p>","DOI":"10.1136\/bcr-2012-008491","type":"journal-article","created":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T01:10:53Z","timestamp":1367284253000},"page":"bcr2012008491","source":"Crossref","is-referenced-by-count":1,"title":["Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis"],"prefix":"10.1136","volume":"2013","author":[{"given":"Mohammad Zouheir","family":"Habbal","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarek","family":"Bou Assi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hicham","family":"Mansour","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,4,29]]},"reference":[{"key":"2025082723123061000_2013.apr29_1.bcr2012008491.1","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1056\/NEJMoa021736","article-title":"Natural History of alkaptonuria","volume":"2013","author":"Phornphutkul","year":"2002","journal-title":"N Engl J Med"},{"key":"2025082723123061000_2013.apr29_1.bcr2012008491.2","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/S1096-7192(02)00002-1","article-title":"Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype","volume":"2013","author":"Srsen","year":"2002","journal-title":"Mol Genet 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