Preferred Label : brain diseases, metabolic, inborn;
MeSH definition : 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.;
MeSH synonym : inborn metabolic brain diseases; metabolic diseases, inborn, brain; metabolic brain syndrome, inborn; encephalopathies, metabolic, inborn; inborn errors of metabolism, brain; inborn metabolic brain disorders; inborn metabolic disorders, brain; metabolic brain diseases, inborn; brain syndrome, metabolic, inborn;
MeSH Hyperonym : central nervous system inborn metabolic diseases; Metabolic Disorders, CNS, Inborn; Metabolic Diseases, Inborn, Central Nervous System; Central Nervous System Inborn Metabolic Disorders; CNS Metabolic Disorders, Inborn;
MeSH hyponym : brain diseases, metabolic, inherited; Familial Metabolic Brain Diseases; Familial Metabolic Disorders, Brain; Metabolic Disorders, Familial, Brain; Inherited Metabolic Disorders, Brain; Metabolic Brain Diseases, Familial; Metabolic Brain Diseases, Inherited; Metabolic Disorders, Brain, Inherited; Brain Diseases, Metabolic, Familial; Inherited Metabolic Brain Diseases;
MeSH annotation : General, prefer specifics; DF: BRAIN DIS METAB INBORN; general or unspecified, prefer specifics;
Origin ID : D020739;
UMLS CUI : C0752109;
Allowable qualifiers
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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.
