Cobalamin C defect associated with hemolytic-uremic syndrome.
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.
Geraghty
M T
MT
Department of Pediatrics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Perlman
E J
EJ
Martin
L S
LS
Hayflick
S J
SJ
Casella
J F
JF
Rosenblatt
D S
DS
Valle
D
D
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*
D008764:Methylmalonic Acid; D014805:Vitamin B 12