Cobalamin C defect associated with hemolytic-uremic syndrome

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

Research output: Contribution to journalArticle

74 Scopus citations

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 - Jun 1992

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Cobalamin C defect associated with hemolytic-uremic syndrome'. Together they form a unique fingerprint.

  • Cite this

    Geraghty, M. T., Perlman, E. J., Martin, L. S., Hayflick, S. J., 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