title: Cobalamin C defect associated with hemolytic-uremic syndrome.
abstract: We describe 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 failure. Review of this and other described cases of the cobalamin C defect suggests that the hemolytic-uremic syndrome is part of the phenotypic spectrum of this inborn error of cobalamin metabolism.
authors.affiliation: Department of Pediatrics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: E J
authors.initials: EJ
authors.lastname: Perlman
authors.forename: L S
authors.initials: LS
authors.lastname: Martin
authors.forename: S J
authors.initials: SJ
authors.lastname: Hayflick
authors.forename: J F
authors.initials: JF
authors.lastname: Casella
authors.forename: D S
authors.initials: DS
authors.lastname: Rosenblatt
authors.forename: D
authors.initials: D
authors.lastname: Valle
mesh_terms: D005260:Female; D005808:Genes, Recessive; D006463:Hemolytic-Uremic Syndrome / Q000150:complications*; D006712:Homocystinuria / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D008764:Methylmalonic Acid / Q000652:urine*; D010641:Phenotype; D014805:Vitamin B 12 / Q000378:metabolism*
chemical_list: D008764:Methylmalonic Acid; D014805:Vitamin B 12