Article
Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.
Pediatrics - 1 Dec 2011
Oladipo Olajumoke, Rosenblatt David S, Watkins David, Miousse Isabelle Racine, Sprietsma Laurie, Dietzen Dennis J, Shinawi Marwan
Abstract excerpt
The cobalamin F (cblF) defect is caused by disturbed lysosomal release of cobalamin (vitamin B(12)) into the cytoplasm caused by mutations in the LMBRD1 gene. We present the clinical and biochemical characterization of a patient with newly diagnosed cblF disease and a follow-up on a 14-year-old patient. The new patient presented with elevation of propionyl carnitine found on a newborn screen. The patient was...
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