Diseases

Inborn Errors Amino Acid Metabolism

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

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MeSH Record

Synonyms

14 entry terms
  • Amino Acid Metabolism Disorders, Inborn
  • Amino Acid Metabolism, Inborn Error
  • Amino Acid Metabolism, Inborn Errors
  • Amino Acidopathies, Congenital
  • Amino Acidopathies, Inborn
  • Congenital Amino Acidopathies
  • Inborn Errors, Amino Acid Metabolism
  • Amino Acidopathy, Congenital
  • Amino Acidopathy, Inborn
  • Congenital Amino Acidopathy
  • Inborn Amino Acidopathies
  • Inborn Amino Acidopathy
  • Amino Acid Metabolism, Inherited Disorders
  • Inherited Errors of Amino Acid Metabolism

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

coord IM with specific amino acid /metab (IM)

MeSH Record

History Note

1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964

MeSH Hierarchy

Tree Numbers

MeSH Record

NLM Classification

QU 265.5.A5

AMA Style

References

  1. National Library of Medicine. Inborn Errors Amino Acid Metabolism. Medical Subject Headings (MeSH). 2026. Unique ID D000592. http://id.nlm.nih.gov/mesh/2026/D000592
  2. Inborn Errors Amino Acid Metabolism. In: Wikidata. https://www.wikidata.org/wiki/Q18558086