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- W4254564990 abstract "Inborn errors of amino acid and organic acid metabolism are a subgroup of genetic disorders that involve the transformation of metabolites in the body. Amino acid and organic acid pathways involve small molecules that generally are ingested in the diet or are the result of tissue breakdown during the catabolism that accompanies a variety of acute intercurrent illnesses. These disorders are generally inherited in an autosomal recessive manner. Maple syrup urine disease (MSUD) is caused by a genetic deficiency in branched chain keto acid decarboxylase, an enzyme complex. This complex is responsible for the decarboxylation of the keto acids of the three branched chain amino acids, leucine, isoleucine, and valine. A number of metabolic disorders are characterized by the absence of acute manifestations in the newborn period, but rather by progressive or more insidious developmental delay or neurological disability. These disorders are phenylketonuria, hyperphenylalaninemia, homocystinuria and biotinidase deficiency." @default.
- W4254564990 created "2022-05-12" @default.
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- W4254564990 date "2016-04-22" @default.
- W4254564990 modified "2023-10-13" @default.
- W4254564990 title "Disorders of amino acid, organic acid, and ammonia metabolism" @default.
- W4254564990 cites W2071808643 @default.
- W4254564990 doi "https://doi.org/10.1002/9781118777329.ch166" @default.
- W4254564990 hasPublicationYear "2016" @default.
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