title: Vitamin B12 Deficiency in Infancy: The Case for Screening.
abstract: The classic principles put forth by Wilson and Jungner are often applied to determine the suitability of a condition for universal newborn screening. The three cases described here portray the harmful effects of vitamin B12 deficiency in infancy. The challenges and opportunities of early recognition and treatment are highlighted. Screening newborns would allow early detection and prevention of severe neurological damage in vitamin B12 -deficient infants and enable diagnosis of unrecognized maternal pernicious anemia in asymptomatic mothers. However, lack of standardized methodology and screening cutoffs present challenges to the use of current tandem mass spectrometry technologies for screening.
authors.affiliation: Sections of Paediatric Haematology and Paediatric Oncology, Department of Paediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.|Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Gurpreet
authors.initials: G
authors.lastname: Singh
authors.affiliation: Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.|Section of Paediatric Haematology, Department of Paediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Doan
authors.initials: D
authors.lastname: Le
authors.affiliation: Newborn Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Edmonton, Alberta, Canada.|Department of Laboratory Medicine and Pathology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Kareena
authors.initials: K
authors.lastname: Schnabl
authors.affiliation: Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.|Section of Paediatric Haematology, Department of Paediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Leaker
authors.affiliation: Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.|Section of Paediatric Haematology, Department of Paediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: MacGregor
authors.initials: M
authors.lastname: Steele
authors.affiliation: Section of Clinical Genetics, Department of Paediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.|Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Sparkes
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis* / Q000503:physiopathology
keywords: early detection; infants; neurological effects; newborn screening; vitamin B12 deficiency