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Mesh term Amino Acid Metabolism, Inborn Errors

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Metabolism, Inborn Errors

Description

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.


Browse to child terms:
Albinism
Alkaptonuria
Hyperglycinemia, Nonketotic
Hyperhomocysteinemia
Hyperlysinemias
Maple Syrup Urine Disease
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Carboxylase Deficiency
Phenylketonurias
Prolidase Deficiency
Propionic Acidemia
Tyrosinemias
Urea Cycle Disorders, Inborn


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