Neonatology

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Inborn errors of metabolism

Australia

• Australian Journal of General Practice
  • Universal screening for familial hypercholesterolaemia in newborns: Time for general practice to contribute [2023]

• WA Health
  • Metabolic Disorders: Inherited

Austria

• Journal of Inherited Metabolic Disease
  • 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021 [2022]

Austria, Germany, Switzerland

• Journal of Inherited Metabolic Disease
  • Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries [2025]

Brazil

• Arquivos de Neuro-Psiquiatria
  • Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil [2023]

Canada

• Orphanet Journal of Rare Diseases
  • Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network [2020]

• Perinatal Services BC
  • Newborn Metabolic Screening [2024]

China

• BMC Health Services Research
  • Cost-effectiveness analysis of tandem mass spectrometry compared to fluorescence analysis for screening neonatal genetic metabolic diseases [2025]

• BMJ Open
  • Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study [2019]

• Frontiers in Molecular Biosciences
  • Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations [2021]

• Journal of Medical Screening
  • Newborn screening for inherited metabolic diseases using tandem mass spectrometry in China: Outcome and cost-utility analysis [2022]

• Orphanet Journal of Rare Diseases
  • Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis [2024]
  • Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes [2023]
  • China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases [2023]

• PLoS ONE
  • Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening [2024]

Ecuador

• BMC Pediatrics
  • Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings [2024]

Europe

• European Journal of Paediatric Neurology
  • Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management [2024]

• Journal of Inherited Metabolic Disease
  • Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines [2025]

• Orphanet Journal of Rare Diseases
  • The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) [2024]
  • Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia [2014]
  • Suggested Guidelines for the Diagnosis and Management of Urea Cycle Disorders [2012]

Europe, United States

• Orphanet Journal of Rare Diseases
  • Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe [2020]

France

• Haute Autorité de Santé
  • Inborn errors of metabolism: assessment of expanded newborn screening using tandem mass spectrometry in France (part 2) [2022]
  • Recommendations for the expansion of newborn screening to MCAD deficiency [2011]

Germany

• Molecular Genetics and Metabolism
  • Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations [2024]

High-income countries

• Journal of Inherited Metabolic Disease
  • Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies [2024]

Hong Kong

• Hong Kong Medical Journal
  • The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong [2018]

• International Journal of Neonatal Screening
  • Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey [2024]

India

• Indian Academy of Pediatrics
  • Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics [2018]

International

• Cells
  • Newborn Screening: Review of its Impact for Cystinosis [2022]

• Clinical and Experimental Pediatrics
  • Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis [2020]

• European Journal of Paediatric Neurology
  • Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion [2025]

• Genetics in Medicine
  • Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis [2025]

• International Journal of Neonatal Screening
  • Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs [2017]

• Journal of Inherited Metabolic Disease
  • Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis [2025]
  • Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes [2025]
  • Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition [2024]
  • Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency [2017]
  • Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines [2015]

• Molecular Genetics and Metabolism
  • The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective [2020]
  • Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach [2014]

• Neonatology
  • Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes [2016]

• Neurology
  • International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach [2022]

• Nutrients
  • The Importance of Neonatal Screening for Galactosemia [2022]

• Orphanet Journal of Rare Diseases
  • Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review [2025]
  • Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies [2020]
  • Consensus clinical management guidelines for Niemann-Pick disease type C [2018]

• Pediatric Nephrology
  • Inborn errors of metabolism in neonates and pediatrics on varying dialysis modalities: a systematic review and meta-analysis [2025]

Iran

• BMC Health Services Research
  • A policy analysis of the national phenylketonuria screening program in Iran [2021]

• BMC Pediatrics
  • Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis [2020]

• Journal of Research in Medical Sciences
  • Newborn Screening for inherited metabolic disorders; news and views [2013]

• Orphanet Journal of Rare Diseases
  • Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach [2025]

Italy

• Orphanet Journal of Rare Diseases
  • Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey [2025]

Japan

• International Journal of Neonatal Screening
  • Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant [2021]
  • Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan [2021]

• Orphanet Journal of Rare Diseases
  • Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy [2025]
  • Current status of newborn screening for Pompe disease in Japan [2021]

Kuwait

• International Journal of Neonatal Screening
  • Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience [2021]

Latin America

• International Journal of Neonatal Screening
  • Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives [2020]

• Nutrients
  • Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey [2021]

Lebanon

• Journal of Medical Screening
  • Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon [2015]

Macedonia

• Orphanet Journal of Rare Diseases
  • Phenylketonuria screening in the Republic of Macedonia [2016]

Middle East

• Therapeutics and Clinical Risk Management
  • Guidelines for acute management of hyperammonemia in the Middle East region [2016]

Netherlands

• Frontiers in Cell and Developmental Biology
  • Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor [2020]

• Human Mutation
  • Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening [2021]

• International Journal of Neonatal Screening
  • Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability [2024]

• JIMD Reports
  • Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization [2020]

• Journal of Inherited Metabolic Disease
  • Sex-specific newborn screening for X-linked adrenoleukodystrophy [2023]

New Zealand

• Health New Zealand
  • Newborn Metabolic Screening Programme: Guidelines for Health Practitioners [2024]
  • Newborn Metabolic Screening Programme

Poland

• Genes
  • Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme [2022]

Saudi Arabia

• Annals of Saudi Medicine
  • Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia [2022]

Slovenia

• Genes
  • Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program [2022]

South-Eastern Europe

• Orphanet Journal of Rare Diseases
  • Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries [2015]

Spain

• Anales de Pediatría (English Edition)
  • Newborn screening for metabolic disorders in Spain and worldwide [2019]

• Orphanet Journal of Rare Diseases
  • Spanish consensus on managing pregnancy in women with Gaucher disease [2025]
  • A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up [2024]

Taiwan

• Diagnostics
  • Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis [2021]

• Journal of Pediatrics
  • Outcome of later-onset Pompe disease identified through newborn screening [2022]

Thailand

• PLoS ONE
  • An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand [2015]

Turkey

• Orphanet Journal of Rare Diseases
  • A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics [2025]

United Arab Emirates

• JIMD Reports
  • Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014) [2015]

United Kingdom

• International Journal of Neonatal Screening
  • The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism [2020]

• National Institute for Health and Care Excellence
  • Sebelipase alfa for treating Wolman disease [2024]

• NHS England
  • Clinical commissioning policy: Subcutaneous copper histidinate injections for presymptomatic neonates with classical Menkes disease [2023]
  • Newborn blood spot screening: laboratory guide for IMDs

• UK National Screening Committee
  • Tyrosinaemia
  • PKU
  • Organic acid oxidation disorders
  • MSUD
  • MPS I
  • MCADD
  • LCHADD
  • IVA
  • HCU
  • Gaucher disease
  • Galactosaemia
  • GA1
  • Biotinidase deficiency
  • Amino acid metabolism disorders
  • ALD

United States

• American College of Medical Genetics and Genomics
  • Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) [2025]
  • Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG) [2025]
  • Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG) [2022]
  • Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [2021]
  • Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [2020]
  • Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) [2018]
  • Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics [2017]
  • Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals [2011]

• American Family Physician
  • Inborn Errors of Metabolism: From Preconception to Adulthood [2019]

• Annals of Translational Medicine
  • Newborn screening and changing face of inborn errors of metabolism in the United States [2018]

• Cytotherapy
  • Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States [2024]

• Genetics in Medicine
  • Newborn screening 50 years later: access issues faced by adults with PKU [2013]

• Global Heart
  • It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States [2024]

• International Journal of Neonatal Screening
  • Lessons Learned from Pompe Disease Newborn Screening and Follow-up [2020]
  • Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation [2020]
  • Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI [2020]
  • Newborn Screening for X-Linked Adrenoleukodystrophy [2016]

• Journal of Inherited Metabolic Disease
  • MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines [2021]

• Molecular Genetics and Metabolism
  • Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus [2022]

• Molecular Genetics and Metabolism Reports
  • Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations [2020]

• National Institute of Child Health and Human Development
  • Phenylketonuria (PKU)

• Orphanet Journal of Rare Diseases
  • Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease [2018]

• Pediatric Endocrine Society
  • Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen [2018]

• Pediatrics
  • Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening [2025]

Western countries

• Journal of Inherited Metabolic Disease
  • Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases [2025]

{Related topics}

• Topic
  • Newborn
  • Neonatal screening