Abstract
Newborn screening for Cystathionine beta Synthase (CBS deficiency, also known as Homocystinuria) was initiated in some states as early as 1968 with the aim of preventing devastating complications from inadequate early treatment. During the 1990s, improvements in technology allowed for CBS deficiency to be detected by mass spectrometry detection of methionine levels from the dried blood spot card. Not until 2009 was CBS deficiency recommended to be universally screened in all US states following its inclusion in the Recommended Uniform Screening Panel (RUSP).
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