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Newborn Screening for Glutaric Aciduria-II: The New England Experience
I Sahai1, C L Garganta, J Bailey
1New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, MA, USA, inderneel.sahai@umassmed.edu.
JIMD Reports
|November 6, 2013
Summary
Newborn screening detects Glutaric Aciduria-Type II (GA-II), including severe and milder forms. This analysis identified affected infants and carriers, improving diagnostic accuracy for GA-II.
Area of Science:
- Biochemistry
- Genetics
- Neonatal Medicine
Background:
- Newborn screening (NBS) with tandem mass spectrometry (MS/MS) enables early detection of metabolic disorders.
- Glutaric Aciduria-Type II (GA-II) is a rare genetic disorder affecting amino acid metabolism.
Purpose of the Study:
- To report on the follow-up of infants with positive Glutaric Aciduria-Type II (GA-II) screens.
- To evaluate the effectiveness of NBS in identifying GA-II, including its various forms and carriers.
Main Methods:
- Screening of 1.5 million infants for GA-II using MS/MS between February 1999 and December 2012.
- Specialist consultation for infants with elevated acylcarnitine levels suggestive of GA-II.
- Review of clinical outcomes and marker profiles for confirmed cases and false positives.
Main Results:
- Seven out of 82 infants with positive GA-II screens were confirmed to have the disorder.
- Four infants presented with the severe form of GA-II, with three exhibiting milder forms identified through NBS.
- Two GA-II carriers were identified, and remaining positive screens were classified as false positives.
Conclusions:
- Newborn screening effectively identifies both severe and milder forms of GA-II, as well as carriers.
- Some false positive screens may represent milder GA-II cases, necessitating further investigation.
- Development of GA-II indexes from characteristic profiles can aid in predicting disorder probability and guiding intervention urgency.
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