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© 1991 American Academy of Neurology Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiencyDepartment of Medicine, and Department of Biochemistry, Biophysics and Genetics (Drs. Stabler and Allen), University of Colorado Health Sciences Center, Denver, CO; and the College of Physicians and Surgeons, Columbia University, and Departments of Medicine and Neurology, Columbia-Presbyterian and Harlem Hospital Centers (Drs. Barrett, Savage, and Lindenbaum), New York, NY. We measured methylmalonic acid, which accumulates in the blood and tissues of patients with cobalamin deficiency, in the CSF of 65 patients using capillary-gas chromatography and mass spectrometry. In 58 control patients, methylmalonic acid concentrations were always higher in CSF than in serum (mean CSF: serum ratio, 2.65; range, 1.17 to 7.78). In contrast, in six patients with elevated serum methylmalonic acid levels due to renal failure, CSF concentrations were normal in five and the CSF: serum ratio was less than one in four. In three patients with neuropsychiatric syndromes due to cobalamin deficiency and one patient with a normal serum cobalamin level who was an abuser of nitrous oxide, CSF concentrations were markedly increased (mean level, 600 times that of controls), out of proportion to those in the serum (mean CSF: serum ratio, 8.38; range, 3.5 to 13.5). The potential usefulness of CSF metabolite levels in the diagnosis of cobalamin deficiency is undetermined. Address correspondence and reprint requests to Dr. Sally P. Stabler, Division of Hematology, Campus Box B170, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Denver, CO 80262. Supported by Department of Health and Human Services Research Grants (DK31765 and DK21365) from the National Institute of Diabetes and Digestive and Kidney Diseases. Received February 8, 1991. Accepted for publication in final form April 2, 1991.
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