Work

Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon

Year: 2025

Type: article

Abstract: )or variant(s) of unknown significance. These identified newborns were evaluated at the Oregon Health & Science University (OHSU) metabolic clinic in Portland, Oregon. However, due to the COVID-19 pandemic, clinicians had to pivot from in-person to virtual visits and triage on acuity, which impacted the time to diagnosis. Of referred babies, 3 are currently receiving treatment for their detected LSD. Over 50 babies have an inconclusive or possible late onset diagnosis with uncertain timeline for development of symptoms.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2025.101221

Authors: Sarah Viall, Patrice Held

Institutions: Oregon Health & Science University, Oregon Health Authority

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,400