Cobalamin C defect associated with hemolytic-uremic syndrome

Michael T. Geraghty, Elizabeth J. Perlman, Laura S. Martin, Susan Hayflick, James F. Casella, David S. Rosenblatt, David Valle

Research output: Contribution to journalArticle

72 Citations (Scopus)

Abstract

We desciribe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failur. Review of this and other described aases of the cobalamin C defect suggests that the hemolytic-uremic syndrome is part of the phenotypic spectrum of this inborn error of cobalamin metabolism.

Original languageEnglish (US)
Pages (from-to)934-937
Number of pages4
JournalThe Journal of Pediatrics
Volume120
Issue number6
DOIs
StatePublished - 1992
Externally publishedYes

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Hemolytic-Uremic Syndrome
Vitamin B 12
Homocystinuria
Inborn Errors Metabolism
Renal Hypertension
Hemolytic Anemia
Thrombocytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Geraghty, M. T., Perlman, E. J., Martin, L. S., Hayflick, S., Casella, J. F., Rosenblatt, D. S., & Valle, D. (1992). Cobalamin C defect associated with hemolytic-uremic syndrome. The Journal of Pediatrics, 120(6), 934-937. https://doi.org/10.1016/S0022-3476(05)81967-5

Cobalamin C defect associated with hemolytic-uremic syndrome. / Geraghty, Michael T.; Perlman, Elizabeth J.; Martin, Laura S.; Hayflick, Susan; Casella, James F.; Rosenblatt, David S.; Valle, David.

In: The Journal of Pediatrics, Vol. 120, No. 6, 1992, p. 934-937.

Research output: Contribution to journalArticle

Geraghty, MT, Perlman, EJ, Martin, LS, Hayflick, S, Casella, JF, Rosenblatt, DS & Valle, D 1992, 'Cobalamin C defect associated with hemolytic-uremic syndrome', The Journal of Pediatrics, vol. 120, no. 6, pp. 934-937. https://doi.org/10.1016/S0022-3476(05)81967-5
Geraghty, Michael T. ; Perlman, Elizabeth J. ; Martin, Laura S. ; Hayflick, Susan ; Casella, James F. ; Rosenblatt, David S. ; Valle, David. / Cobalamin C defect associated with hemolytic-uremic syndrome. In: The Journal of Pediatrics. 1992 ; Vol. 120, No. 6. pp. 934-937.
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