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Rethinking Newborn Screening: A Case of GALM Deficiency
Eva M M Hoytema van Konijnenburg1, Silvia Radenkovic2, Klaas Koop1
1Section of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
International Journal of Neonatal Screening
|April 23, 2025
Summary
Galactosemia, a metabolic disorder, can be caused by galactose mutarotase (GALM) deficiency. This study highlights a patient with GALM deficiency who had negative newborn screening, emphasizing the need for broader metabolic screening.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Galactosemia comprises hereditary disorders of galactose metabolism.
- Galactose mutarotase (GALM) deficiency represents a newly identified subtype.
- Previous GALM-deficient patients typically presented with abnormal newborn screening (NBS).
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