Search on: BRAIN DISEASES, METABOLIC, INBORN 
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Descriptor English:   Brain Diseases, Metabolic, Inborn 
Descriptor Spanish:   Encefalopatías Metabólicas Innatas 
Descriptor Portuguese:   Encefalopatias Metabólicas Congênitas 
Synonyms English:   Brain Diseases, Metabolic, Familial
Brain Diseases, Metabolic, Inherited
Brain Syndrome, Metabolic, Inborn
CNS Metabolic Disorders, Inborn
Central Nervous System Inborn Metabolic Diseases
Central Nervous System Inborn Metabolic Disorders
Encephalopathies, Metabolic, Inborn
Familial Metabolic Brain Diseases
Familial Metabolic Disorders, Brain
Inborn Errors of Metabolism, Brain
Inborn Metabolic Brain Diseases
Inborn Metabolic Brain Disorders
Inborn Metabolic Disorders, Brain
Inherited Metabolic Brain Diseases
Inherited Metabolic Disorders, Brain
Metabolic Brain Diseases, Familial
Metabolic Brain Diseases, Inborn
Metabolic Brain Diseases, Inherited
Metabolic Brain Syndrome, Inborn
Metabolic Diseases, Inborn, Brain
Metabolic Diseases, Inborn, Central Nervous System
Metabolic Disorders, Brain, Inherited
Metabolic Disorders, CNS, Inborn
Metabolic Disorders, Familial, Brain  
Tree Number:   C10.228.140.163.100
C16.320.565.189
C18.452.132.100
C18.452.648.189
Definition English:   Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. 
Indexing Annotation English:   general or unspecified, prefer specifics
See Related English:   Intellectual Disability
 
History Note English:   2000 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   34228 
Unique Identifier:   D020739 

Occurrence in VHL:
 
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