by Georgianne L. Arnold

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, technique and management of these disorders.

by Marie K. Norris  and Shibani Kanungo

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 intricacies of medical nutrition therapy for several common metabolic disorders and underscores the crucial role of metabolic dietitians in managing these patients.

by Sydney Rudowski  , Cornelius F. Boerkoel  , Miao He  and Shibani Kanungo

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 management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenge [...]

by Ashley Lahr  , Nadene Henderson  , Lee Williams  , Georgianne Arnold  and Damara Ortiz

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 for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, includi [...]

by Nirasha Nundkumar  , Sooboo Singh  and Moganavelli Singh

Received: 14 June 2023;  Published: 21 September 2023;  doi: 10.21926/obm.genet.2303193

Layered double hydroxides (LDHs) have interesting properties and structures that enable them to carry nucleic acids, such as deoxyribonucleic acid (DNA). This study synthesized LDHs using the co-precipitation method and functionalized with the amino acids arginine (Arg) and histidine (His) to promote proton-sponge activity for enhanced transgene expression. The LDHs were characterized using X-ray diffraction (XRD), transmission electron microscopy (TEM), and nanoparticle tracking analysis (NTA). The interaction of [...]

by Matthew Kostek  and Siyu Liu

Received: 28 March 2023;  Published: 19 September 2023;  doi: 10.21926/obm.genet.2303192

Human skeletal muscle exhibits remarkable plasticity, being responsive to chemical, mechanical, metabolic, and inflammatory stress. When the homeostatic disturbance is below a threshold of significant damage, the muscle responds by modifying metabolic activity, cell size/shape, and structure, thereby normalizing cellular function. If the disturbance causes significant damage, skeletal muscle, along with a precisely choreographed response from the immune system, can regenerate. Very few pathological conditions inhib [...]

by Hana Alharbi  and Miao He

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 technology into the program. Significant differences in the diseases screened by NBS were noted between programs in United States. Therefore, the recommended uniform screening panel was developed in 2006 to include a lis [...]

by Christin Deal  , Kara Coffey  and Hey Chong

Received: 02 June 2023;  Published: 04 August 2023;  doi: 10.21926/obm.genet.2303190

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) has been successfully implemented in all 50 United States and Puerto Rico from 2008-2018. This life-saving screening tool has drastically improved overall survival of babies diagnosed with SCID from 74% to 96%. TREC is a stable, circular DNA molecule that is produced during the process of T-cell receptor (TCR) rearrangement and is the target of the quantitative PCR screen on Guthrie cards. Low TRECs are a marker of low naive T cell numbers. This ne [...]

by Michel Ravelonandro  and Pascal Briard

Received: 16 January 2023;  Published: 25 July 2023;  doi: 10.21926/obm.genet.2303189

In order to sustain productivity, growers are implementing fruit trees to provide plum pox virus (PPV) resistant varieties. Unfortunately, classical breeding approaches have failed to develop resistant varieties. RNA interference (RNAi) silencing, as an alternate strategy, has been shown to be an efficient approach to combat PPV disease (sharka). PPV resistance based on RNAi has been demonstrated in natural conditions for over 10 years. Experiments using graft inoculation in high-containment greenhouses show that s [...]

by Sandra D.K. Kingma  , An I. Jonckheere  , Laurence Roosens  and François Eyskens

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 severely affected MPS I patients. Neurocognitive manifestations are typically limited in more attenuated MPS I, but patients may still suffer from severe somatic and bone manifestations. Severe MPS I patients are primaril [...]