OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, etc.). There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Publication Speed (median values for papers published in 2023): Submission to First Decision: 5.1 weeks; Submission to Acceptance: 17.0 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)

Current Issue: 2024  Archive: 2023 2022

Topical Collection

Newborn Screening and Inherited Metabolic Disorders


Shibani Kanungo, MD, MPH, FAAP, FACMG, Professsor

Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, Michigan, United States.

Website1 | Website2 | E-Mail

Research Interests: Inborn Errors of Metabolism, Newborn Screening, Genetics, Ethics

Miao He, PhD

Co-Director of Metabolic and Advanced Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Website | E-Mail

Research interests: Glycomic Biomarkers; Inherited Metabolic Diseases; Genetic Disorders; Sterols; Overproliferative Inflammatory Skin Disorders

Georgianne Arnold, MD, Professor of Pediatrics

Director, Medical Genetics Clinical Research, Department of Pediatrics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, USA

Website1 | Website2 | E-Mail

About the topic:

Newborn Screening, historically initiated more than 60 years old in the United States, has played a vital role in metabolic disorders all over the world. A public health initiative that helped identify a single metabolic disorder, Phenylketonuria (PKU), has now emerged into the most successful public health program now detecting more than 50 conditions. And, includes amino acid disorders, organic acid disorders, fatty acid oxidation disorders, galactose metabolism disorders, biotin metabolism disorder, lysosomal storage disorder, mucopolysaccharidoses, and peroxisomal disorders. Newborn Screening helps diagnose potentially debilitating and even lethal metabolic conditions before any clinical symptom presentations in newborns, as well as in mothers and other members of a family. Prenatal testing options have an equally vital role in diagnosis and management. Newborn Screening has crossed known geographic and political boundaries and is adapted by many countries in all continents. As a result, our understanding of various metabolic disorders’ clinical presentations, treatment approaches and outcomes has evolved. NBS has helped advance molecular technologies in diagnostic approaches as well helped advance innovative treatment approaches like orthotopic liver transplantation, enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy. Newborn Screening has also emerged as an integrative endeavor between engineering, basic sciences, genetics, clinical medicine, nutritional sciences, pharmaceuticals, public health, public policy, ethics and law.

Publication (12 papers)


Jump to: 2023 2022 

Open Access Review

Krabbe Disease–To Add or Not to Newborn Screening?

Received: 07 September 2023;  Published: 12 January 2024;  doi: 10.21926/obm.genet.2401210


Krabbe disease (KD), a severe neurodegenerative disorder, has been controversial in the space of newborn screening (NBS) in the United States. Families continue to advocate for the addition of KD to the Recommended Uniform Screening Panel (RUSP) after being declined for the second time i [...]


Jump to: 2024 2022 

Open Access Concept Paper

Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

Received: 21 March 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304201


The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Ma [...]
Open Access Review

Newborn Screening for Inborn Errors of Metabolism

Received: 14 June 2023;  Published: 18 October 2023;  doi: 10.21926/obm.genet.2304197


Newborn screening can now detect more than 50 disorders, providing early and often life-saving treatment. Inborn errors of metabolism account for the majority of these disorders. This review will consider the more common metabolic disorders identified on newborn screening, including history, techniq [...]
Open Access Review

Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

Received: 29 June 2023;  Published: 10 October 2023;  doi: 10.21926/obm.genet.2304196


The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. This review highlights the intricaci [...]
Open Access Review

Whole Genome Sequencing in Era of Newborn Screening

Received: 20 April 2023;  Published: 05 October 2023;  doi: 10.21926/obm.genet.2304195


After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical [...]
Open Access Review

Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers

Received: 14 June 2023;  Published: 25 September 2023;  doi: 10.21926/obm.genet.2303194


Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available fo [...]
Open Access Review

Secondary Findings of Newborn Screening

Received: 16 April 2023;  Published: 31 August 2023;  doi: 10.21926/obm.genet.2303191


The aim of newborn screening (NBS) program is to detect and manage treatable conditions in the early stages prior to the occurrence of long-term and irreversible sequalae. Phenylketonuria was the first screened disorder, but panels rapidly expanded after the introduction of tandem mass spectrometry [...]
Open Access Review

Newborn Screening for Mucopolysaccharidosis Type I: Past, Present and Future

Received: 31 March 2023;  Published: 24 July 2023;  doi: 10.21926/obm.genet.2303188


Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase α-L-iduronidase. MPS I is characterized by a broad range of disease manifestations. This includes devastating neurocognitive and bone manifestations and a short life expectancy in s [...]
Open Access Research Article

Relationship between Hearing Loss Risk Factors and Hearing Screening Results in Newborns: A Retrospective Cross-Sectional Study

Received: 02 January 2023;  Published: 29 June 2023;  doi: 10.21926/obm.genet.2302184


Congenital hearing loss can have a long-term impact on children’s speech and communication abilities. Early detection and intervention of hearing loss are important in newborns. It is well known that there are several risk factors for hearing loss; however, the relationship between these risk factor [...]
Open Access Review

Spinal Muscular Atrophy: An Overview

Received: 10 April 2023;  Published: 14 June 2023;  doi: 10.21926/obm.genet.2302182


Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis [...]


Jump to: 2024 2023 

Open Access Review

Newborn Screening in Gaucher Disease: A Bright and Complicated Future

Received: 20 July 2022;  Published: 26 September 2022;  doi: 10.21926/obm.genet.2203165


Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C Clinical manifestations are heterogenous and c [...]
Open Access Review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161


Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for di [...]