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Glycogen Storage Disease

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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 39789579
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...
Biomarkers Carnitine Child, Preschool Female Glycogen Storage Disease Glycogen Storage Disease Type I Humans Infant Infant, Newborn Machine Learning Male
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A deep learning approach for blood glucose monitoring and hypoglycemia prediction in glycogen storage disease.

Scientific reports 40234688
Glycogen storage disease (GSD) is a group of rare inherited metabolic disorders characterized by abnormal glycogen storage and breakdown. These disorders are caused by mutations in G6PC1, which is essential for proper glucose storage and metabolism. ...
Adolescent Adult Algorithms Blood Glucose Blood Glucose Self-Monitoring Child Child, Preschool Deep Learning Female Glycogen Storage Disease Humans Hypoglycemia Male Middle Aged Retrospective Studies
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