Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

Autor:	Cantley NWP; South West Newborn Screening and Metabolic Laboratory, Severn Pathology, Southmead Hospital, Bristol BS10 5NB, UK., Barski R; Biochemical Genetics, Specialist Laboratory Medicine, Block 46, St James University Hospital, Leeds LS9 7TF, UK., Kemp H; South West Newborn Screening and Metabolic Laboratory, Severn Pathology, Southmead Hospital, Bristol BS10 5NB, UK., Hogg SL; Biochemical Genetics Unit, Cambridge University Hospitals, Cambridge CB2 0QQ, UK., Wu HYT; Willink Biochemical Genetics Laboratory, Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Bowron A; Metabolic and Newborn Screening Section, Department of Blood Sciences, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle-Upon-Tyne NE1 4LP, UK., Collingwood C; Biochemistry Department, Alder Hey Children's NHS Foundation Trust, Liverpool L12 2AP, UK., Cundick J; Regional Newborn Screening Laboratory, Royal Victoria Hospital, Belfast BT12 6BA, UK., Hart C; Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Shakespeare L; Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Preece MA; Newborn Screening and Biochemical Genetics, Paediatric Laboratory Medicine, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK., Aitkenhead H; Department of Chemical Pathology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Smith S; Scottish Newborn Screening Laboratory, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Carling RS; Biochemical Sciences, Synnovis, Guys & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; GKT School Medical Education, Kings College London, London WC2R 2LS, UK., Moat SJ; Department of Medical Biochemistry, Immunology & Toxicology, University Hospital Wales, Cardiff CF14 4XW, UK.; School of Medicine, Cardiff University, Cardiff CF14 4XW, UK.
Jazyk:	angličtina
Zdroj:	International journal of neonatal screening [Int J Neonatal Screen] 2023 Dec 22; Vol. 10 (1). Date of Electronic Publication: 2023 Dec 22.
DOI:	10.3390/ijns10010002
Abstrakt:	In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an "Other disorder suspected" (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increased. We aimed to determine the efficacy of CG detection via NBS and estimate the incidence of CG in live births in the UK. A survey was sent to all UK NBS laboratories to collate CG cases diagnosed in the UK from 2010 to 2020. Cases of CG diagnosed were determined if detected clinically, NBS, or by family screening, as well as age at diagnosis. Cases referred via the ODS pathway were also collated, including the final diagnosis made. Responses were obtained from 13/16 laboratories. Between 2010 and 2020, a total of 6,642,787 babies were screened, and 172 cases of CG were identified. It should be noted that 85/172 presented clinically, 52/172 were identified by NBS, and 17/172 came from family screening. A total of 117 referrals were made via the ODS pathway, and 45/117 were subsequently diagnosed with CG. Median (interquartile range) age at diagnosis by NBS and clinically was 8 days (7-11) and 10 days (7-16), respectively (Mann-Whitney U test, U = 836.5, p -value = 0.082). The incidence of CG is 1:38,621 live births. The incidence of CG in the UK is comparable with that of other European/western countries. No statistical difference was seen in the timing of diagnosis between NBS and clinical presentation based on the current practice of sampling on day 5. Bringing forward the day of NBS sampling to day 3 would increase the proportion diagnosed with CG by NBS from 52/172 (30.2%) to 66/172 (38.4%). Competing Interests: The authors declare no conflicts of interest.
Databáze:	MEDLINE
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