Search on: AMINO ACIDOPATHIES, CONGENITAL 
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Descriptor English:   Amino Acid Metabolism, Inborn Errors 
Descriptor Spanish:   Errores Innatos del Metabolismo de los Aminoácidos 
Descriptor Portuguese:   Erros Inatos do Metabolismo dos Aminoácidos 
Synonyms English:   Amino Acidopathies, Congenital  
Tree Number:   C16.320.565.100
C18.452.648.100
Definition English:   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. 
Indexing Annotation English:   coord IM with specific amino acid /metab (IM); DF: AA METAB INBORN ERR
History Note English:   1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   596 
Unique Identifier:   D000592 

Occurrence in VHL:
 

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