| Descriptor English: | Amino Acid Metabolism, Inborn Errors | ||||||
| Descriptor Spanish: |
Errores Innatos del Metabolismo de los Aminoácidos
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| Descriptor Portuguese: | Erros Inatos do Metabolismo dos Aminoácidos | ||||||
| Descriptor French: | Aminoacidopathies congénitales | ||||||
| Entry term(s): |
Amino Acid Metabolism Disorders, Inborn Amino Acid Metabolism, Inborn Error Amino Acid Metabolism, Inherited Disorders 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 Inherited Errors of Amino Acid Metabolism |
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| Tree number(s): |
C16.320.565.100 C18.452.648.100 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D000592 | ||||||
| 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. |
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| Annotation: | coord IM with specific amino acid /metab (IM) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964 |
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| History Note: | 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964 |
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| Entry Version: | AA METAB INBORN ERR |
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| DeCS ID: | 596 | ||||||
| Unique ID: | D000592 | ||||||
| NLM Classification: | WD 205.5.A5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1965/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2006/07/05 |
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Amino Acid Metabolism, Inborn Errors
- Preferred
Amino Acid Metabolism, Inherited Disorders
- Narrower
| Concept UI |
M0000918 |
| 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. |
| Preferred term | Amino Acid Metabolism, Inborn Errors |
| Entry term(s) |
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 |
| Concept UI |
M0333991 |
| Preferred term | Amino Acid Metabolism, Inherited Disorders |
| Entry term(s) |
Inherited Errors of Amino Acid Metabolism |
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