Rohollah Lak1, Bahareh Yazdizadeh2, Majid Davari3, Mojtaba Nouhi4, Roya Kelishadi5. 1. Vice-Chancellery for Health, Isfahan University of Medical Sciences, Isfahan, Iran. 2. Knowledge Utilization Research Center, Tehran University of Medical Sciences, Tehran, Iran. 3. Department of Pharmacoeconomics and Pharmaceutical Administration, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran. 4. Health Equity Research Center, Tehran University of Medical Sciences, Tehran, Iran. 5. Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Diseases, Isfahan University of Medical Sciences, Isfahan, Iran.
Abstract
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula. The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. It has been postulated that galactosaemia could be detected on newborn screening and this would prevent the immediate severe liver dysfunction and sepsis. This is an update of a previously published review. OBJECTIVES: To assess whether there is evidence that newborn screening for galactosaemia prevents or reduces mortality and morbidity and improves clinical outcomes in affected neonates and the quality of life in older children. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from electronic database searches, handsearches of relevant journals and conference abstract books. We also searched online trials registries and the reference lists of relevant articles and reviews. Date of the most recent search of Cochrane Cystic Fibrosis Group's Trials Register: 12 December 2019. Date of the most recent search of additional resources: 02 February 2020. SELECTION CRITERIA: Randomised controlled studies and controlled clinical studies, published or unpublished comparing the use of any newborn screening test to diagnose infants with galactosaemia and presenting a comparison between a screened population versus a non-screened population. DATA COLLECTION AND ANALYSIS: No studies of newborn screening for galactosaemia were found. MAIN RESULTS: No studies were identified for inclusion in the review. AUTHORS' CONCLUSIONS: We were unable to identify any eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on randomised controlled studies. However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate.
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula. The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. It has been postulated that galactosaemia could be detected on newborn screening and this would prevent the immediate severe liver dysfunction and sepsis. This is an update of a previously published review. OBJECTIVES: To assess whether there is evidence that newborn screening for galactosaemia prevents or reduces mortality and morbidity and improves clinical outcomes in affected neonates and the quality of life in older children. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from electronic database searches, handsearches of relevant journals and conference abstract books. We also searched online trials registries and the reference lists of relevant articles and reviews. Date of the most recent search of Cochrane Cystic Fibrosis Group's Trials Register: 12 December 2019. Date of the most recent search of additional resources: 02 February 2020. SELECTION CRITERIA: Randomised controlled studies and controlled clinical studies, published or unpublished comparing the use of any newborn screening test to diagnose infants with galactosaemia and presenting a comparison between a screened population versus a non-screened population. DATA COLLECTION AND ANALYSIS: No studies of newborn screening for galactosaemia were found. MAIN RESULTS: No studies were identified for inclusion in the review. AUTHORS' CONCLUSIONS: We were unable to identify any eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on randomised controlled studies. However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate.
Authors: Ina Knerr; Karen Patricia Coss; Jürgen Kratzsch; Ellen Crushell; Anne Clark; Peter Doran; Yoon Shin; Henning Stöckmann; Pauline Mary Rudd; Eileen Treacy Journal: Pediatr Res Date: 2015-06-08 Impact factor: 3.756