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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Female
-
Genes, Recessive
-
Hemolytic-Uremic Syndrome / complications*
-
Homocystinuria / complications*
-
Homocystinuria / genetics
-
Humans
-
Infant, Newborn
-
Metabolism, Inborn Errors / complications*
-
Metabolism, Inborn Errors / genetics
-
Methylmalonic Acid / urine*
-
Phenotype
-
Vitamin B 12 / metabolism*
Substances
-
Methylmalonic Acid
-
Vitamin B 12