{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T11:20:06Z","timestamp":1787743206147,"version":"build-2784847793"},"reference-count":17,"publisher":"BMJ","issue":"8","license":[{"start":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T00:00:00Z","timestamp":1787702400000},"content-version":"unspecified","delay-in-days":25,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,3]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>\n                    Aromatic L-amino acid decarboxylase (AADC) deficiency (Online Mendelian Inheritance in Man #608643) is a rare autosomal recessive neurometabolic disorder caused by pathogenic variants in the\n                    <jats:italic>DDC<\/jats:italic>\n                    gene, leading to impaired enzyme activity. Affected individuals typically develop symptoms in early infancy, including truncal hypotonia, global developmental delay and oculogyric crises, and the condition is generally associated with a severe clinical course and poor prognosis.\n                  <\/jats:p>\n                  <jats:p>We report a patient with a mild and atypical phenotype of AADC deficiency complicated by sensorineural hearing loss and oculocutaneous albinism. The clinical course and response to treatment are described. This unusual presentation raises the possibility of coexisting conditions contributing to the phenotype.<\/jats:p>\n                  <jats:p>This case highlights the clinical variability of AADC deficiency and underscores the importance of comprehensive genetic and biochemical investigations to achieve an accurate diagnosis and inform personalised management.<\/jats:p>","DOI":"10.1136\/bcr-2025-269867","type":"journal-article","created":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T10:35:45Z","timestamp":1787740545000},"page":"e269867","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Mild form of aromatic L-amino acid decarboxylase deficiency"],"prefix":"10.1136","volume":"19","author":[{"given":"Viktorija","family":"Kenina","sequence":"first","affiliation":[{"name":"Department of Biology and Microbiology, Riga Stradins University, Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikus","family":"D\u012briks","sequence":"additional","affiliation":[{"name":"Paul Stradins Clinical University Hospital, Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u012bna","family":"P\u016bc\u012bte","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Riga Stradins University, Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiga","family":"M\u016brmane","sequence":"additional","affiliation":[{"name":"Department of Genetics, Riga East University Hospital, Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baiba","family":"Lace","sequence":"additional","affiliation":[{"name":"Department of Genetics, Riga East University Hospital, Riga, Latvia"},{"name":"University of Latvia, Riga, 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