{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:33:19Z","timestamp":1786980799687,"version":"build-2736575974"},"reference-count":0,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,10,5]],"date-time":"2007-10-05T00:00:00Z","timestamp":1191542400000},"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":[[2007,11]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010Hydroxyglutaric aciduria (\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010hydroxyglutarate dehydrogenase, which normally catalyses\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010hydroxyglutarate to \u03b1\u2010ketoglutarate. It is characterized by progressive mental deterioration, pyramidal and cerebellar syndromes, macrocephaly and marked polycystic white\u2010matter degeneration mainly involving frontal lobes. Brain tumours of variable nature have frequently been observed in\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010OHGA. We report a patient affected by this disease who at the age of 20 years developed a bone tumour involving the right frontal region of the calvaria. He had first presented at the age of 10 years with psychomotor delay, clumsy gait and moderate mental impairment. Examination showed macrocephaly, cerebellar ataxia and quadripyramidal syndrome. Brain MRI showed low signal intensities on T1\u2010weighted images and high signal intensities on T2\u2010weighted images in cerebral subcortical white matter. Serum and urinary amino acid assay was normal. Urinary 2\u2010hydroxyglutaric acid was 1418 mmol\/mol creatinine (controls &lt;25). Analysis of the\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010hydroxyglutarate dehydrogenase gene revealed a homozygous mutation in exon 2 (A320G). At the age of 20 years, an osteoma of the right frontal bone was diagnosed. This finding reinforces the opinion concerning the association of\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010OHGA and tumorigenesis and prompted us to verify the possible responsibility of some overproduced substances in this disease for the development of tumours and to look for any correlation between the type of mutation in the\n                    <jats:sc>l<\/jats:sc>\n                    \u20102\u2010OHGA gene and the tumorigenic potential observed in some patients affected by this disease.\n                  <\/jats:p>","DOI":"10.1007\/s10545-007-0576-0","type":"journal-article","created":{"date-parts":[[2007,10,4]],"date-time":"2007-10-04T08:32:34Z","timestamp":1191486754000},"page":"980-980","source":"Crossref","is-referenced-by-count":15,"title":["Osteoma of the calvaria in\n                    <scp>l<\/scp>\n                    \u20102\u2010hydroxyglutaric aciduria"],"prefix":"10.1002","volume":"30","author":[{"given":"A.","family":"Larnaout","sequence":"first","affiliation":[{"name":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia"},{"name":"Institut National de Neurologie La Rabta Tunis 1007 Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Amouri","sequence":"additional","affiliation":[{"name":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Neji","sequence":"additional","affiliation":[{"name":"Service de Neuroradiologie Institut National de Neurologie, La Rabta Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Zouari","sequence":"additional","affiliation":[{"name":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Kaabachi","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie H\u00f4pital la Rabta Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Hentati","sequence":"additional","affiliation":[{"name":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,10,5]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0576-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0576-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:43:52Z","timestamp":1694738632000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0576-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,5]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1007\/s10545-007-0576-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0576-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,5]]}}}