{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T05:19:09Z","timestamp":1781846349780,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,7,21]],"date-time":"2010-07-21T00:00:00Z","timestamp":1279670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a 32\u2010year\u2010old patient who, from age 7 months, developed photophobia, left\u2010eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise\u2010induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramatically after effort. PDHc deficiency was demonstrated in muscle and fibroblasts without detectable <jats:italic>PDHA1<\/jats:italic> mutations. Ketogenic diet was ineffective, however thiamine gave good response although bilateral ptosis and weakness with acidosis on exercise persisted. Recently, <jats:italic>DLD<\/jats:italic> gene analysis revealed a homozygous missense mutation, c.1440 A&gt;G (p.I480M), in the interface domain. Both parents are heterozygous and DLD activity in the patient's fibroblasts is undetectable. The five patients that have been reported with <jats:italic>DLD<\/jats:italic>\u2010interface mutations suffered fatal deteriorations. Our patient's disease is milder, only myopathic, more similar to that due to mutation p.G229C in the NAD<jats:sup>+<\/jats:sup>\u2010binding domain. Two of the five patients presented mutations (p.D479V and p.R482G) very close to the present case (p.I480M). Despite differing degrees of clinical severity, all three had minimal clues to DLD deficiency, with occasional minor increases in \u03b1\u2010ketoglutarate and branched\u2010chain amino acids. In the two other patients, hypertrophic cardiomyopathy was a significant feature that has been attributed to moonlighting proteolytic activity of monomeric DLD, which can degrade other mitochondrial proteins, such as frataxin. Our patient does not have cardiomyopathy, suggesting that p.I480M may not affect the DLD ability to dimerize to the same extent as p.D479V and p.R482G. Our patient, with a novel mutation in the <jats:italic>DLD<\/jats:italic> interface and mild clinical symptoms, further broadens the spectrum of this enzyme defect.<\/jats:p>","DOI":"10.1007\/s10545-010-9169-4","type":"journal-article","created":{"date-parts":[[2010,7,20]],"date-time":"2010-07-20T10:56:28Z","timestamp":1279623388000},"page":"315-319","source":"Crossref","is-referenced-by-count":24,"title":["Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain"],"prefix":"10.1002","volume":"33","author":[{"given":"Ester","family":"Quintana","sequence":"first","affiliation":[{"name":"Secci\u00f3n de Errores Cong\u00e9nitos del Metabolismo, Servicio de Bioqu\u00edmica y Gen\u00e9tica Molecular, Hospital Cl\u00ednic Instituto de Bioqu\u00edmica Cl\u00ednica Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merc\u00e9","family":"Pineda","sequence":"additional","affiliation":[{"name":"Servicios de Bioqu\u00edmica y Neurolog\u00eda Pedi\u00e1trica Hospital Sant Joan de Deu Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Font","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Errores Cong\u00e9nitos del Metabolismo, Servicio de Bioqu\u00edmica y Gen\u00e9tica Molecular, Hospital Cl\u00ednic Instituto de Bioqu\u00edmica Cl\u00ednica Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Antonia","family":"Vilaseca","sequence":"additional","affiliation":[{"name":"Servicios de Bioqu\u00edmica y Neurolog\u00eda Pedi\u00e1trica Hospital Sant Joan de Deu Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Tort","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Errores Cong\u00e9nitos del Metabolismo, Servicio de Bioqu\u00edmica y Gen\u00e9tica Molecular, Hospital Cl\u00ednic Instituto de Bioqu\u00edmica Cl\u00ednica Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Ribes","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Errores Cong\u00e9nitos del Metabolismo, Servicio de Bioqu\u00edmica y Gen\u00e9tica Molecular, Hospital Cl\u00ednic Instituto de Bioqu\u00edmica Cl\u00ednica Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paz","family":"Briones","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Errores Cong\u00e9nitos del Metabolismo, Servicio de Bioqu\u00edmica y Gen\u00e9tica Molecular, Hospital Cl\u00ednic Instituto de Bioqu\u00edmica Cl\u00ednica Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"},{"name":"Consejo Superior de Investigaciones Cient\u00edficas Barcelona Spain"},{"name":"Instituto de Bioqu\u00edmica Cl\u00ednica Edificio Helios III, c\/Mejia Lequerica s\/n Barcelona 08028 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