{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T00:49:05Z","timestamp":1755218945360,"version":"3.43.0"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T00:00:00Z","timestamp":1681257600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/ http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n            <jats:title>Introduction and importance:<\/jats:title>\n            <jats:p>Biotinidase deficiency (BTD) is an autosomal recessive disorder and causes the deficiency of four biotin-containing carboxylases. The prevalence is estimated at 1 in 60\u00a0000 births. BTD is associated with a wide spectrum of clinical manifestations, including abnormalities of the neurological, dermatological, immunological, and ophthalmological systems. Spinal cord demyelination as a manifestation of BTD has been infrequently described.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation:<\/jats:title>\n            <jats:p>The authors present a case of 2.5-year-old boy complained of progressive weakness in all four limbs, with difficulties in breathing.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Clinical discussion:<\/jats:title>\n            <jats:p>Abdominal examination revealed hepatomegaly and splenomegaly. Also, her parents were first-degree cousins. Therefore, tandem mass spectroscopy and urine organic acid analysis were planned to exclude metabolic disorders. Urinary organic acid analysis revealed elevated levels of methylmalonic acid and 3-hydroxyisovaleric acid. Serum biotinidase activity was found to be 3.9\u00a0nmol\/min\/ml. Oral biotin at a dose of 1\u00a0mg\/kg daily was initiated. A marked improvement of his neurological deficit was noted over a period of 15 days after treatment and cutaneous manifestations resolved within 3 weeks.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>Myelopathy due to BTD is a challenging diagnosis. Spinal cord impairment is a rare complication of this disease and is frequently unrecognized. BTD should be included in the differential diagnosis of children presenting with demyelinating spinal cord disease.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/ms9.0000000000000099","type":"journal-article","created":{"date-parts":[[2023,4,11]],"date-time":"2023-04-11T05:01:37Z","timestamp":1681189297000},"page":"1826-1829","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Tetraparesis as an initial manifestation of biotinidase deficiency: a case report"],"prefix":"10.1097","volume":"85","author":[{"given":"Maysaa","family":"Badour","sequence":"first","affiliation":[{"name":"Department of Neurology, Pediatric University Hospital, Damascus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3992-9776","authenticated-orcid":false,"given":"Ali","family":"Hammed","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Tishreen University Hospital, Lattakia, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameer","family":"Baqla","sequence":"additional","affiliation":[{"name":"Department of Neurology, Pediatric University Hospital, Damascus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatema","family":"Amer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Pediatric University Hospital, Damascus"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2023,5]]},"reference":[{"key":"R1-20250806","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/0009-8981(83)90096-7","article-title":"Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency","volume":"131","author":"Wolf","year":"1983","journal-title":"Clin Chim Acta"},{"issue":"suppl","key":"R4-20250806","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/0387-7604(94)90099-X","article-title":"The clinical 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