TY - JOUR
T1 - Cobalamin C Mutation (Methylmalonic Aciduria and Homocystinuria) in Adolescence
T2 - A Treatable Cause of Dementia and Myelopathy
AU - Shinnar, Shlomo
AU - Singer, Harvey S.
PY - 1984/8/16
Y1 - 1984/8/16
N2 - DISORDERS of cobalamin (vitamin B12) can be divided into those associated with a deficiency of this essential cofactor and those due to inborn metabolic errors. When they are a result of an inborn error of metabolism, symptoms usually appear in infancy and consist of failure to thrive, developmental retardation, seizures, and hematologic abnormalities.1 2 3 4 5 6 7 8 9 10 In contrast, cobalamin-deficiency disorders generally occur in adulthood and are associated with megaloblastic anemia, subacute combined degeneration, and mental disturbances.11 In this report, we describe an adolescent girl with progressive dementia and myelopathy secondary to a familial intracellular defect of B]2 metabolism (cobalamin C mutation),.
AB - DISORDERS of cobalamin (vitamin B12) can be divided into those associated with a deficiency of this essential cofactor and those due to inborn metabolic errors. When they are a result of an inborn error of metabolism, symptoms usually appear in infancy and consist of failure to thrive, developmental retardation, seizures, and hematologic abnormalities.1 2 3 4 5 6 7 8 9 10 In contrast, cobalamin-deficiency disorders generally occur in adulthood and are associated with megaloblastic anemia, subacute combined degeneration, and mental disturbances.11 In this report, we describe an adolescent girl with progressive dementia and myelopathy secondary to a familial intracellular defect of B]2 metabolism (cobalamin C mutation),.
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U2 - 10.1056/NEJM198408163110707
DO - 10.1056/NEJM198408163110707
M3 - Article
C2 - 6749192
AN - SCOPUS:0021615191
SN - 0028-4793
VL - 311
SP - 451
EP - 454
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 7
ER -