Article
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Molecular genetics and metabolism - 1 Nov 2017
Gallant N M, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns G M, Packman S, Lin H J, Wilcox W R, Cederbaum S D, Abdenur J E
Abstract excerpt
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn...
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