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Pan Canadian Guidance for NBS
(English)
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Author(s): Canada Drug Agency
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Description: Pan Canadian Guidance for Newborn screening: Building the Foundations for Early Detection and Diagnosis of Conditions
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HCU Newborn Screening - This little dot
(English)
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Author(s): CanPKU+; Chute, Tanya
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Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization
(English)
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Author(s): Pickens, C. Austin Courtney, Elya , Isenberg, Samantha L. ,Cuthbert, Carla ,and Petritism Konstantinos
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Description: Classical homocystinuria (HCU) results from deficient cystathionine ?-synthase activity, causing elevated levels of Met and homocysteine (Hcy). Newborn screening (NBS) aims to identify HCU in pre-symptomatic newborns by assessing Met concentrations in first-tier screening. However, unlike Hcy, Met testing leads to a high number of false-positive and -negative results. Therefore, screening for Hcy directly in first-tier screening would be a better biomarker for use in NBS.
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PDF - News
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Timing is Everything
(English)
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Author(s): Immunity Canada, NRBDO
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Description: A 2023 report and recommendations for federal and provincial/territorial policy makers, prepared by Immunity Canada and NRBDO - Network of Rare Blood Disorder Organizations
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HCU Newborn Screening Nation Wide - U of Waterloo Students
(English)
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Author(s): CanPKU+; Greene, Ciandra; Barsa, Jappan; Labib, Jonya; Teklehaimanot, Mahlet; Dyck, Megan; Zhou, Kyle
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Description: University of Waterloo students were challenged with a project to help a not for profit see through a problem and create solutions
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Early Development of Newborn Screening for HCU and Current Challenges
(English)
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Author(s): Levy, Harvey L.
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Description: Classic homocystinuria (HCU) was added to newborn screening (NBS) by Robert Guthrie a few years after the disorder was first described. The justification for NBS was similar to that for PKU, that presymptomatic identification and early dietary treatment would prevent the clinical consequences, which, for HCU, are mental deficiency, ectopia lentis, skeletal abnormalities, and thromboembolism. It was assumed that identifying increased methionine in the screening blood specimen would identify all affected neonates. However, it is now clear that many with HCU are missed by NBS, mainly because the methionine level in the first days of life is normal or below the cutoff level in the NBS program. This includes virtually all of those with B6 -responsive HCU. T
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PDF - Scientific Paper
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Newborn screening for homocystinurias: Recent recommendations versus current practice
(English)
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Author(s): Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi-Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; E-HOD
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Description: Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations
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