{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T09:06:03Z","timestamp":1789031163829,"version":"build-2803163510"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"3","license":[{"start":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T00:00:00Z","timestamp":1784160000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_almed-2025-0193_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The coexistence of multisystemic involvement in a young adult raises the need to consider rare metabolic and mitochondrial disorders. We report a case of late-onset propionic acidemia (PPA) that may have contributed to unmasking Leber hereditary optic neuropathy (LHON), an extremely infrequent association.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_almed-2025-0193_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 43-year-old woman presented with acute biventricular heart failure following a viral infection. Evaluation revealed severe dilated cardiomyopathy, newly diagnosed type 2 diabetes mellitus, and bilateral sensorineural hearing loss. Genetic testing for cardiomyopathy was unremarkable. Two months later, she developed sudden bilateral blindness due to optic neuropathy. Extended genetic analysis identified a pathogenic\n                      <jats:italic>RDH12<\/jats:italic>\n                      variant consistent with LHON and two\n                      <jats:italic>POLG<\/jats:italic>\n                      variants. Progressive renal dysfunction and long QTc interval prompted metabolic investigation. Urine organic acids showed marked accumulation of propionate-related metabolites, and plasma acylcarnitines revealed elevated C3 and low free carnitine, confirming late-onset PPA. The pattern of cardiac dysfunction, renal impairment, and hearing loss was consistent with chronic multisystem toxicity of\u00a0PPA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_almed-2025-0193_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In this patient, mitochondrial dysfunction from PPA may have precipitated the clinical expression of LHON, a condition with incomplete penetrance. This exceptional coexistence highlights that rare diseases may overlap and that unexplained multisystem findings warrant comprehensive metabolic and genetic evaluation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/almed-2025-0193","type":"journal-article","created":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T15:55:36Z","timestamp":1784130936000},"page":"234-237","source":"Crossref","is-referenced-by-count":0,"title":["When rare diseases do not appear as a single entity"],"prefix":"10.1515","volume":"7","author":[{"given":"Isabel","family":"Solares","sequence":"first","affiliation":[{"name":"Rare Disease Unit, Internal Medicine Department , Clinica Universidad de Navarra , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estibaliz","family":"Alegre","sequence":"additional","affiliation":[{"name":"Biochemistry Department , Cl\u00ednica Universidad de Navarra , Pamplona , Spain"},{"name":"Navarra Institute for Health Research (IDISNA) , Pamplona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inmaculada","family":"Colina","sequence":"additional","affiliation":[{"name":"Rare Disease Unit, Internal Medicine Department , Clinica Universidad de Navarra , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Jose","family":"Gavira","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Cl\u00ednica Universidad de Navarra , Pamplona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Alvarez de Sierra","sequence":"additional","affiliation":[{"name":"Department of Radiology, Cancer Center , Clinica Universidad de Navarra , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Llorente-Gonzalez","sequence":"additional","affiliation":[{"name":"Retinal Pathologies and New Therapies Group, Experimental Ophthalmology Laboratory, Department of Ophthalmology , Clinica Universidad de Navarra , Pamplona , Spain"},{"name":"Navarra Institute for Health Research (IDISNA) , Pamplona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Biochemistry Department , Cl\u00ednica Universidad de Navarra , Pamplona , Spain"},{"name":"Navarra Institute for Health Research (IDISNA) , Pamplona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,7,16]]},"reference":[{"key":"2026091008070965590_j_almed-2025-0193_ref_001","doi-asserted-by":"crossref","unstructured":"Perrault, I, Hanein, S, Gerber, S, Barbet, F, Ducroq, D, Dollfus, H, et al.. 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