AIMC Topic: Alkaptonuria

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Redefining a new frontier in alkaptonuria therapy with AI-driven drug candidate design via innovation.

Zeitschrift fur Naturforschung. C, Journal of biosciences Jul 12, 2024
A rare metabolic condition called alkaptonuria (AKU) is caused by a decrease in homogentisate 1,2 dioxygenase (HGO) activity due to a mutation in homogentisate dioxygenase (HGD) gene. Homogentisic acid is a byproduct of the catabolism of tyrosine and...
Humans Artificial Intelligence Computer Simulation Molecular Docking Simulation Drug Design Flavanones Enzyme Inhibitors Kaempferols Cyclohexanones Alkaptonuria Homogentisate 1,2-Dioxygenase 4-Hydroxyphenylpyruvate Dioxygenase Nitrobenzoates Homogentisic Acid
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Towards a Precision Medicine Approach Based on Machine Learning for Tailoring Medical Treatment in Alkaptonuria.

International journal of molecular sciences Jan 26, 2021
ApreciseKUre is a multi-purpose digital platform facilitating data collection, integration and analysis for patients affected by Alkaptonuria (AKU), an ultra-rare autosomal recessive genetic disease. It includes genetic, biochemical, histopathologica...
Humans Machine Learning Algorithms Databases, Factual Precision Medicine Quality of Life Models, Theoretical Disease Management Disease Susceptibility Alkaptonuria
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Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.

Journal of inherited metabolic disease May 1, 2025
Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre-processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuri...
Humans Female Adult Male Middle Aged Severity of Illness Index Deep Learning Radiography Spinal Diseases Alkaptonuria
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Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.

Briefings in bioinformatics Sep 2, 2021
Alkaptonuria (AKU, OMIM: 203500) is an autosomal recessive disorder caused by mutations in the Homogentisate 1,2-dioxygenase (HGD) gene. A lack of standardized data, information and methodologies to assess disease severity and progression represents ...
Humans Machine Learning Precision Medicine Female Male Genotype Databases, Genetic Mutation Patient Selection Rare Diseases Alkaptonuria Homogentisate 1,2-Dioxygenase
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