Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

摘要: Background: Systemic primary carnitine deficiency is an autosomal recessive disorder of the cycle caused by mutations in SLC22A5 gene that encodes transporter, organic cation transporter. typically presents childhood with either metabolic decompensation or cardiomyopathy. We report five families which low free levels infants’ newborn screening have led to diagnosis maternal systemic deficiency. Methods: Blood samples from infants and /or their family members were used extract DNA. The entire coding regions sequenced. clinical data obtained referring specialists. Result: Sequencing allowed molecular confirmation identification three novel mutations: c.1195CT (p.R399W), c.1324_1325GCAT (p.A442I), c.43GT (p.G15W). All asymptomatic at time diagnosis, one was found Three mothers are asymptomatic, had decreased stamina during pregnancy, has mild fatigability developed preeclampsia. Discussion: These findings provide further evidence a broad spectrum infancy adult. uncovered results supporting previous notion can identify some inborn errors metabolism. It also emphasizes importance evaluation after level screening. Genet Med 2010:12(1):19–24.