GTR Home > Conditions/Phenotypes > Disorder of amino acid metabolism

Summary

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. [from MeSH]

Available tests

13 tests are in the database for this condition.

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Genes See tests for all associated and related genes

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Clinical resources

Practice guidelines

  • CDC, 2012
    Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

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