JIM 2024;
1 (4): e630
DOI: 10.61012_202411_630
Galactosemia: insights into newborn screening strategies
Topic: Laboratory
Category: Review
Abstract
Galactosemia is a group of hereditary disorders that affect galactose metabolism, potentially causing fatal multi-organ toxicity. However, the morbidity and mortality associated with galactosemia can be prevented through a galactose-restricted diet. The earlier this diet is implemented, the better the prognosis, although some long-term complications may persist despite early dietary intervention. Early diagnosis and treatment, achieved through newborn screening (NBS), are crucial. NBS for galactosemia enables timely diagnosis and intervention, significantly reducing early neonatal complications and mortality. This study aims to highlight the importance of NBS for galactosemia and review the various screening strategies implemented worldwide. We conducted a literature review to summarize the inclusion of galactosemia in NBS programs, the methodologies used, and the screening modalities applied. Alongside phenylketonuria, galactosemia was among the first conditions for which neonatal screening tests became available. Despite this long history, controversy persists, and the inclusion of galactosemia in NBS panels varies across countries. The two primary types of assays used in galactosemia screening are total galactose tests and enzyme activity tests, applied either as single-tier or two-tier approaches. This review outlines the key characteristics of galactosemia, the principles and methodologies underlying screening tests, the strategies for their implementation, and the performance of various screening programs worldwide.
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To cite this article
Galactosemia: insights into newborn screening strategies
JIM 2024;
1 (4): e630
DOI: 10.61012_202411_630
Publication History
Submission date: 02 Oct 2024
Revised on: 05 Nov 2024
Accepted on: 21 Nov 2024
Published online: 29 Nov 2024