{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T09:37:43Z","timestamp":1766050663362,"version":"3.37.3"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T00:00:00Z","timestamp":1723248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We report on a male patient who was investigated for frequent apneic episodes, feeding problems, hypotonia, and left-sided middle cerebral artery infarction in the magnetic resonance imaging at 2 weeks of age. Primary diagnosis of dihydropyrimidinase (DPYS) deficiency was suspected following the analysis of urine for organic acid; DPYS deficiency was strongly suggested by the presence of dihydrouracil, thymine, and uracil. Subsequent genetic evaluation by whole exome sequencing revealed 2 separate mutations, homozygous pathogenic variant c.1010T&amp;gt;C p.Leu337Pro of the DPYS gene, resulting in DPYS deficiency, and homozygous pathogenic variant c.535C&amp;gt;T p.Arg179* of TBX19 gene, which is associated with autosomal recessive congenital isolated adrenocorticotrophic hormone deficiency. Currently, the patient is 2 years old, and he has gross motor retardation and seizure disorder. We suggest that the clinical phenotype of the proband can be a result of mixed expression of both mutations.<\/jats:p>","DOI":"10.1093\/labmed\/lmae058","type":"journal-article","created":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T20:17:40Z","timestamp":1723321060000},"page":"93-96","source":"Crossref","is-referenced-by-count":1,"title":["Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy"],"prefix":"10.1093","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2121-1996","authenticated-orcid":false,"given":"Shifaniya Banu","family":"Mohideen","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology, Lady Ridgeway Hospital for Children , Colombo ,","place":["Sri Lanka"]},{"name":"Department of Chemical Pathology, Medical Research Institute , Colombo ,","place":["Sri Lanka"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8322-5704","authenticated-orcid":false,"given":"Pitipanage Mihika Samindi","family":"Fernando","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, Lady Ridgeway Hospital for Children , Colombo ,","place":["Sri Lanka"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[{"name":"Centogene GmbH , Rostock ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Schroder","sequence":"additional","affiliation":[{"name":"Centogene GmbH , Rostock ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catarina","family":"Pereira","sequence":"additional","affiliation":[{"name":"Centogene GmbH , Rostock ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senaka","family":"Gunatilleke","sequence":"additional","affiliation":[{"name":"Neonatology Unit, Provincial General Hospital , Badulla ,","place":["Sri Lanka"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pyara","family":"Rathnayake","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Lady Ridgeway Hospital for Children , Colombo ,","place":["Sri Lanka"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eresha","family":"Jasinge","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, Lady Ridgeway Hospital for Children , Colombo ,","place":["Sri 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