Article
Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
Molecular genetics and metabolism - 1 May 2011
Leydiker K B, Neidich J A, Lorey F, Barr E M, Puckett R L, Lobo R M, Abdenur J E
Abstract excerpt
Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. Newborn screening has also been shown to detect previously undiagnosed maternal inborn errors of...
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