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Concept information

Preferred term

Amino Acid Metabolism, Inborn Errors  

Type

  • Topical Descriptor

Entry terms

  • Amino Acid Metabolism Disorders, Inborn
  • Amino Acid Metabolism, Inborn Error
  • Amino Acidopathies, Congenital
  • Amino Acidopathies, Inborn
  • Amino Acidopathy, Congenital
  • Amino Acidopathy, Inborn
  • Congenital Amino Acidopathies
  • Congenital Amino Acidopathy
  • Inborn Amino Acidopathies
  • Inborn Amino Acidopathy
  • Inborn Errors, Amino Acid Metabolism

Note

  • coord IM with specific amino acid /metab (IM)

Scope note

  • 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.

History note

  • 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964

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URI

http://www.yso.fi/onto/mesh/D000592

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