Structured Summary
Abstract
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 Record
Classification
Broader headings
Narrower headings
- Adrenoleukodystrophy
- Familial Cerebral Amyloid Angiopathy
- Galactosemias
- Hartnup Disease
- Hepatolenticular Degeneration
- Hereditary Central Nervous System Demyelinating Diseases
- Homocystinuria
- Hyperlysinemias
- Inborn Urea Cycle Disorders
- Infantile Refsum Disease
- Leigh Disease
- Lesch-Nyhan Syndrome
- Maple Syrup Urine Disease
- MELAS Syndrome
- Menkes Kinky Hair Syndrome
- MERRF Syndrome
- Mevalonate Kinase Deficiency
- Nervous System Lysosomal Storage Diseases
- Nonketotic Hyperglycinemia
- Oculocerebrorenal Syndrome
- Phenylketonurias
- Pyruvate Carboxylase Deficiency Disease
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Refsum Disease
- Tyrosinemias
- Zellweger Syndrome
Related Concepts
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MeSH Record
See Also
MeSH Record
Synonyms
25 entry terms
- Brain Diseases, Metabolic, Inborn
- Brain Syndrome, Metabolic, Inborn
- Encephalopathies, Metabolic, Inborn
- Inborn Errors of Metabolism, Brain
- Inborn Metabolic Brain Diseases
- Inborn Metabolic Brain Disorders
- Inborn Metabolic Disorders, Brain
- Metabolic Brain Diseases, Inborn
- Metabolic Brain Syndrome, Inborn
- Metabolic Diseases, Inborn, Brain
- Brain Diseases, Metabolic, Familial
- Brain Diseases, Metabolic, Inherited
- CNS Metabolic Disorders, Inborn
- Central Nervous System Inborn Metabolic Diseases
- Central Nervous System Inborn Metabolic Disorders
- Familial Metabolic Brain Diseases
- Familial Metabolic Disorders, Brain
- Inherited Metabolic Brain Diseases
- Inherited Metabolic Disorders, Brain
- Metabolic Brain Diseases, Familial
- Metabolic Brain Diseases, Inherited
- Metabolic Diseases, Inborn, Central Nervous System
- Metabolic Disorders, Brain, Inherited
- Metabolic Disorders, CNS, Inborn
- Metabolic Disorders, Familial, Brain
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
general or unspecified, prefer specifics
MeSH Record
History Note
2000
MeSH Record
Previous Indexing
- Brain/metabolism (1968-1999)
- Hereditary Diseases (1968-1999)
- Metabolic Diseases/genetics (1968-1999)
- Metabolism, Inborn Errors (1972-1999)
MeSH Hierarchy
Tree Numbers
MeSH Record
NLM Classification
WL 350
AMA Style
References
- National Library of Medicine. Metabolic Inborn Brain Diseases. Medical Subject Headings (MeSH). 2026. Unique ID D020739. http://id.nlm.nih.gov/mesh/2026/D020739
- Metabolic Inborn Brain Diseases. In: Wikidata. https://www.wikidata.org/wiki/Q19001220