Glycogen Storage Disease Type I

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A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.

Orphanet journal of rare diseases Jan 9, 2025
BACKGROUND: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on...
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Humans Machine Learning Biomarkers Female Infant, Newborn Male Infant Child, Preschool Carnitine Glycogen Storage Disease Type I Glycogen Storage Disease
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