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Published on: June 28, 2024
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level
Rebecca C Ahrens-Nicklas1, Esra Serdaroglu, Colleen Muraresku
1Section of Metabolic Disease, Philadelphia, PA, USA.
Abstract:
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. We report a patient found to have CblC disease who initially presented with low carnitine and normal propionylcarnitine (C3) levels on newborn screen. Newborn screening likely failed to detect CblC in this patient because of both his low carnitine level and the presence of a mild phenotype.
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