PMID- 38248630
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240327
IS  - 2409-515X (Electronic)
IS  - 2409-515X (Linking)
VI  - 10
IP  - 1
DP  - 2023 Dec 22
TI  - Incidental Detection of Classical Galactosemia through Newborn Screening for 
      Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This 
      Approach.
LID - 10.3390/ijns10010002 [doi]
LID - 2
AB  - 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%).
FAU - Cantley, Nathan W P
AU  - Cantley NWP
AD  - South West Newborn Screening and Metabolic Laboratory, Severn Pathology, 
      Southmead Hospital, Bristol BS10 5NB, UK.
FAU - Barski, Robert
AU  - Barski R
AUID- ORCID: 0000-0002-0880-4957
AD  - Biochemical Genetics, Specialist Laboratory Medicine, Block 46, St James 
      University Hospital, Leeds LS9 7TF, UK.
FAU - Kemp, Helena
AU  - Kemp H
AD  - South West Newborn Screening and Metabolic Laboratory, Severn Pathology, 
      Southmead Hospital, Bristol BS10 5NB, UK.
FAU - Hogg, Sarah L
AU  - Hogg SL
AD  - Biochemical Genetics Unit, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.
FAU - Wu, Hoi Yee Teresa
AU  - Wu HYT
AUID- ORCID: 0000-0001-6471-6743
AD  - Willink Biochemical Genetics Laboratory, Genomic Medicine, Manchester University 
      NHS Foundation Trust, Manchester M13 9WL, UK.
FAU - Bowron, Ann
AU  - Bowron A
AD  - Metabolic and Newborn Screening Section, Department of Blood Sciences, Newcastle 
      upon Tyne Hospitals NHS Foundation Trust, Newcastle-Upon-Tyne NE1 4LP, UK.
FAU - Collingwood, Catherine
AU  - Collingwood C
AD  - Biochemistry Department, Alder Hey Children's NHS Foundation Trust, Liverpool L12 
      2AP, UK.
FAU - Cundick, Jennifer
AU  - Cundick J
AD  - Regional Newborn Screening Laboratory, Royal Victoria Hospital, Belfast BT12 6BA, 
      UK.
FAU - Hart, Claire
AU  - Hart C
AD  - Department of Clinical Chemistry and Newborn Screening, Sheffield Children's 
      Hospital, Sheffield S10 2TH, UK.
FAU - Shakespeare, Lynette
AU  - Shakespeare L
AD  - Department of Clinical Chemistry and Newborn Screening, Sheffield Children's 
      Hospital, Sheffield S10 2TH, UK.
FAU - Preece, Mary Anne
AU  - Preece MA
AD  - Newborn Screening and Biochemical Genetics, Paediatric Laboratory Medicine, 
      Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
FAU - Aitkenhead, Helen
AU  - Aitkenhead H
AD  - Department of Chemical Pathology, Great Ormond Street Hospital for Children, 
      London WC1N 3JH, UK.
FAU - Smith, Sarah
AU  - Smith S
AD  - Scottish Newborn Screening Laboratory, Queen Elizabeth University Hospital, 
      Glasgow G51 4TF, UK.
FAU - Carling, Rachel S
AU  - Carling RS
AUID- ORCID: 0000-0003-1988-3088
AD  - Biochemical Sciences, Synnovis, Guys & St Thomas' NHS Foundation Trust, London 
      SE1 7EH, UK.
AD  - GKT School Medical Education, Kings College London, London WC2R 2LS, UK.
FAU - Moat, Stuart J
AU  - Moat SJ
AUID- ORCID: 0000-0002-3592-2254
AD  - Department of Medical Biochemistry, Immunology & Toxicology, University Hospital 
      Wales, Cardiff CF14 4XW, UK.
AD  - School of Medicine, Cardiff University, Cardiff CF14 4XW, UK.
LA  - eng
PT  - Journal Article
DEP - 20231222
PL  - Switzerland
TA  - Int J Neonatal Screen
JT  - International journal of neonatal screening
JID - 101665400
PMC - PMC10801530
OTO - NOTNLM
OT  - classical galactosaemia
OT  - newborn screening
OT  - phenylalanine
OT  - phenylketonuria
OT  - tyrosine
COIS- The authors declare no conflicts of interest.
EDAT- 2024/01/22 06:42
MHDA- 2024/01/22 06:43
PMCR- 2023/12/22
CRDT- 2024/01/22 04:42
PHST- 2023/10/23 00:00 [received]
PHST- 2023/12/12 00:00 [revised]
PHST- 2023/12/15 00:00 [accepted]
PHST- 2024/01/22 06:43 [medline]
PHST- 2024/01/22 06:42 [pubmed]
PHST- 2024/01/22 04:42 [entrez]
PHST- 2023/12/22 00:00 [pmc-release]
AID - ijns10010002 [pii]
AID - IJNS-10-00002 [pii]
AID - 10.3390/ijns10010002 [doi]
PST - epublish
SO  - Int J Neonatal Screen. 2023 Dec 22;10(1):2. doi: 10.3390/ijns10010002.