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Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis.
N Engl J Med. 1988 Jun 30; 318(26):1720-8.NEJM

Abstract

Among 141 consecutive patients with neuro-psychiatric abnormalities due to cobalamin deficiency, we found that 40 (28 percent) had no anemia or macrocytosis. The hematocrit was normal in 34, the mean cell volume was normal in 25, and both tests were normal in 19. Characteristic features in such patients included paresthesia, sensory loss, ataxia, dementia, and psychiatric disorders; longstanding neurologic symptoms without anemia; normal white-cell and platelet counts and serum bilirubin and lactate dehydrogenase levels; and markedly elevated serum concentrations of methylmalonic acid and total homocysteine. Serum cobalamin levels were above 150 pmol per liter (200 pg per milliliter) in 2 patients, between 75 and 150 pmol per liter (100 and 200 pg per milliliter) in 16, and below 75 pmol per liter (100 pg per milliliter) in only 22. Except for one patient who died during the first week of treatment, every patient in this group benefited from cobalamin therapy. Responses included improvement in neuropsychiatric abnormalities (39 of 39), improvement (often within the normal range) in one or more hematologic findings (36 of 39), and a decrease of more than 50 percent in levels of serum methylmalonic acid, total homocysteine, or both (31 of 31). We conclude that neuropsychiatric disorders due to cobalamin deficiency occur commonly in the absence of anemia or an elevated mean cell volume and that measurements of serum methylmalonic acid and total homocysteine both before and after treatment are useful in the diagnosis of these patients.

Authors+Show Affiliations

Department of Medicine, Columbia-Presbyterian Medical Center, New York, NY 10032.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

3374544

Citation

Lindenbaum, J, et al. "Neuropsychiatric Disorders Caused By Cobalamin Deficiency in the Absence of Anemia or Macrocytosis." The New England Journal of Medicine, vol. 318, no. 26, 1988, pp. 1720-8.
Lindenbaum J, Healton EB, Savage DG, et al. Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med. 1988;318(26):1720-8.
Lindenbaum, J., Healton, E. B., Savage, D. G., Brust, J. C., Garrett, T. J., Podell, E. R., Marcell, P. D., Stabler, S. P., & Allen, R. H. (1988). Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. The New England Journal of Medicine, 318(26), 1720-8.
Lindenbaum J, et al. Neuropsychiatric Disorders Caused By Cobalamin Deficiency in the Absence of Anemia or Macrocytosis. N Engl J Med. 1988 Jun 30;318(26):1720-8. PubMed PMID: 3374544.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. AU - Lindenbaum,J, AU - Healton,E B, AU - Savage,D G, AU - Brust,J C, AU - Garrett,T J, AU - Podell,E R, AU - Marcell,P D, AU - Stabler,S P, AU - Allen,R H, PY - 1988/6/30/pubmed PY - 1988/6/30/medline PY - 1988/6/30/entrez SP - 1720 EP - 8 JF - The New England journal of medicine JO - N Engl J Med VL - 318 IS - 26 N2 - Among 141 consecutive patients with neuro-psychiatric abnormalities due to cobalamin deficiency, we found that 40 (28 percent) had no anemia or macrocytosis. The hematocrit was normal in 34, the mean cell volume was normal in 25, and both tests were normal in 19. Characteristic features in such patients included paresthesia, sensory loss, ataxia, dementia, and psychiatric disorders; longstanding neurologic symptoms without anemia; normal white-cell and platelet counts and serum bilirubin and lactate dehydrogenase levels; and markedly elevated serum concentrations of methylmalonic acid and total homocysteine. Serum cobalamin levels were above 150 pmol per liter (200 pg per milliliter) in 2 patients, between 75 and 150 pmol per liter (100 and 200 pg per milliliter) in 16, and below 75 pmol per liter (100 pg per milliliter) in only 22. Except for one patient who died during the first week of treatment, every patient in this group benefited from cobalamin therapy. Responses included improvement in neuropsychiatric abnormalities (39 of 39), improvement (often within the normal range) in one or more hematologic findings (36 of 39), and a decrease of more than 50 percent in levels of serum methylmalonic acid, total homocysteine, or both (31 of 31). We conclude that neuropsychiatric disorders due to cobalamin deficiency occur commonly in the absence of anemia or an elevated mean cell volume and that measurements of serum methylmalonic acid and total homocysteine both before and after treatment are useful in the diagnosis of these patients. SN - 0028-4793 UR - https://www.unboundmedicine.com/medline/citation/3374544/Neuropsychiatric_disorders_caused_by_cobalamin_deficiency_in_the_absence_of_anemia_or_macrocytosis_ L2 - https://www.nejm.org/doi/10.1056/NEJM198806303182604?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -