{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:40:41Z","timestamp":1758192041579,"version":"3.44.0"},"reference-count":9,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging findings but demyelinating leukoencephalopathy is an unusual finding in children with biotinidase deficiency that can cause diagnostic challenge as it can radiologically mimic perinatal hypoxic\u2013ischemic encephalopathy or other leukodystrophies. It reverses with early diagnosis and treatment with biotin supplementation and the outcome is rewarding.<\/jats:p>","DOI":"10.1055\/s-0040-1721678","type":"journal-article","created":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T19:26:29Z","timestamp":1608319589000},"page":"087-090","source":"Crossref","is-referenced-by-count":0,"title":["Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss"],"prefix":"10.53391","volume":"11","author":[{"given":"Vykuntaraju K.","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sukanya","family":"Vignesh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Balamurugan","family":"Nagarajan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varunvenkat M.","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manojna","family":"Battina","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maya","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Christopher","sequence":"additional","affiliation":[{"name":"Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,12,18]]},"reference":[{"key":"ref1","first-page":"3935","volume-title":"Disorders of biotin metabolism","author":"B Wolf","year":"2001","edition":"8th edition"},{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1067\/mpd.2002.121938","article-title":"Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency","volume":"140","author":"B Wolf","year":"2002","journal-title":"J Pediatr"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1046\/j.1365-4362.2000.00841.x","article-title":"Cutaneous and neurologic manifestations of biotinidase deficiency","volume":"39","author":"P C Navarro","year":"2000","journal-title":"Int J Dermatol"},{"issue":"07","key":"ref4","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1097\/GIM.0b013e3181e4cc0f","article-title":"Technical standards and guidelines for the diagnosis of biotinidase deficiency","volume":"12","author":"T M Cowan","year":"2010","journal-title":"Genet Med"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ymgme.2011.06.001","article-title":"The neurology of biotinidase deficiency","volume":"104","author":"B Wolf","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1055\/s-2004-821080","article-title":"Biotinidase deficiency: a treatable leukoencephalopathy","volume":"35","author":"S Gr\u00fcnewald","year":"2004","journal-title":"Neuropediatrics"},{"issue":"08","key":"ref7","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1007\/s00247-008-0904-z","article-title":"Biotinidase deficiency: a reversible metabolic encephalopathy. 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