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- Title
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
- Authors
Roze, Emmanuel; Gervais, David; Demeret, Sophie; Ogier de Baulny, Hélène; Zittoun, Jacqueline; Benoist, Jean-François; Said, Gérard; Pierrot-Deseilligny, Charles; Bolgert, Francis
- Abstract
Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of methylmalonic acid and homocysteine in the blood and urine. Most patients present in the first year of life with systemic, hematological, and neurological abnormalities. Late-onset forms are rare and had not been comprehensively characterized. They could be easily misdiagnosed.
- Publication
Archives of neurology, 2003, Vol 60, Issue 10, p1457
- ISSN
0003-9942
- Publication type
Journal Article
- DOI
10.1001/archneur.60.10.1457