J Pediatr 2009 Dec;155(6):924-7
Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.