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inborn errors of metabolism

Inborn errors of metabolism are genetic disorders due to single gene defects. Many inborn errors of metabolism are abnormalities of enzymes in metabolic pathways. Because this, intermediate metabolites accumulate. Some of the most well known inborn errors of metabolism are: phenylketonurea, Lesch-Nyhan Syndrome, Gaucher's disease and the glycogen storage diseases.


Selected inborn errors of metabolism links:

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