Newborn screening for proximal urea cycle disorders: current evidence supporting recommendations for newborn screening
JL Merritt II, LL Brody, G Pino, P Rinaldo - Molecular Genetics and …, 2018 - Elsevier
Current newborn screening (NBS) for urea cycle disorders (UCD) is incomplete as only
distal UCDs are included in most NBS programs by measuring elevated amino acid
concentrations. NBS for the proximal UCDs involves the detection in NBS spots of low
citrulline values, a finding which is often overlooked because it is considered to be
inadequate. We retrospectively analyzed NBS blood spots from known UCD patients
comparing the utility of the Region 4 Stork (R4S) interpretive tools to conventional cutoff …
distal UCDs are included in most NBS programs by measuring elevated amino acid
concentrations. NBS for the proximal UCDs involves the detection in NBS spots of low
citrulline values, a finding which is often overlooked because it is considered to be
inadequate. We retrospectively analyzed NBS blood spots from known UCD patients
comparing the utility of the Region 4 Stork (R4S) interpretive tools to conventional cutoff …