Newborn screening for homocystinurias: recent recommendations versus current practice

ConclusionsDue to the favourable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, e.g. birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research