{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:40:57Z","timestamp":1790430057798,"version":"4.1.0"},"reference-count":83,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,15]],"date-time":"2015-04-15T00:00:00Z","timestamp":1429056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The disease course and long\u2010term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QT\n                      <jats:sub>c<\/jats:sub>\n                      interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut\n                      <jats:sup>0<\/jats:sup>\n                      patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late\u2010onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease\u2010specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow\u2010up in patients with rare diseases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-015-9840-x","type":"journal-article","created":{"date-parts":[[2015,4,14]],"date-time":"2015-04-14T06:24:35Z","timestamp":1428992675000},"page":"1059-1074","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":198,"title":["The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype"],"prefix":"10.1002","volume":"38","author":[{"given":"Stefan","family":"K\u00f6lker","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Division of Inherited Metabolic Diseases University Children's Hospital Heidelberg Im Neuenheimer Feld 430 Heidelberg 69120 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassili","family":"Valayannopoulos","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker\u2010Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris, Reference Center for Inherited Metabolic Disease Necker\u2010Enfants Malades University Hospital and IMAGINE Institute Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto B.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Azienda Ospedaliera di Padova U.O.C. 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