Topical Collection

Newborn Screening and Inherited Metabolic Disorders

Editors

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)