Article
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2010
El-Hattab Ayman W, Li Fang-Yuan, Shen Joseph, Powell Berkley R, Bawle Erawati V, Adams Darius J, Wahl Erica, Kobori Joyce A, Graham Brett, Scaglia Fernando, Wong Lee-Jun
Abstract excerpt
BACKGROUND: Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter. Systemic primary carnitine deficiency typically presents in childhood with either metabolic decompensation or cardiomyopathy. We report five families in which low free carnitine levels in the infants'...
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