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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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 - Jan 1 1992

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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