Pesquisa
Descritor em português: Erros Inatos do Metabolismo dos Aminoácidos
Descritor em inglês: Amino Acid Metabolism, Inborn Errors
Descritor em espanhol: Errores Innatos del Metabolismo de los Aminoácidos
Descritor alteraciones congénitas del metabolismo de los aminoácidos
Termo(s) alternativo(s) aminoacidopatías congénitas
Nota de escopo: Trastornos metabólicos que afectan al metabolismo de los aminoácidos. La mayoría son trastornos heredados y se presentan durante el periodo neonatal en forma de afecciones metabólicas (ejemplo, ACIDOSIS) y manifestaciones neurológicas. Están presentes al nacer, aunque pueden ser asintomáticos hasta épocas posteriores de la vida.
Descritor em francês: Aminoacidopathies congénitales
Termo(s) alternativo(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
Código(s) hierárquico(s): C16.320.565.100
C18.452.648.100
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D000592
Nota de escopo: 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.
Nota de indexação: coord IM with specific amino acid /metab (IM)
Qualificadores permitidos: 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
Nota MeSH pública: 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
Nota histórica: 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
Versão alternativa: AA METAB INBORN ERR
Identificador DeCS: 596
ID do descritor: D000592
Classificação da NLM: WD 205.5.A5
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/1965
Data de entrada: 01/01/1999
Data de revisão: 05/07/2006
Amino Acid Metabolism, Inborn Errors - Conceito preferido
Identificador do conceito M0000918
Nota de escopo 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.
Termo preferido Amino Acid Metabolism, Inborn Errors
Termo(s) alternativo(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
Amino Acid Metabolism, Inherited Disorders - Mais específico
Identificador do conceito M0333991
Termo preferido Amino Acid Metabolism, Inherited Disorders
Termo(s) alternativo(s) Inherited Errors of Amino Acid Metabolism



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