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Disease Brain Diseases, Metabolic, Inborn

Name Brain Diseases, Metabolic, Inborn
Synonyms Brain Diseases, Metabolic, Familial | Brain Diseases, Metabolic, Inherited | Brain Syndrome, Metabolic, Inborn | Central Nervous System Inborn Metabolic Diseases | Central Nervous System Inborn Metabolic Disorders | CNS Metabolic Disorders, Inborn | 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
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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D020739

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes

Top ↑ Descendants

Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes
  2-Hydroxyglutaricaciduria Has associated chemicals Has associated genes
View node Adrenoleukodystrophy Has associated chemicals Has associated genes
View node Cerebral Amyloid Angiopathy, Familial Has associated chemicals Has associated genes
  Creatine deficiency, X-linked Has associated chemicals Has associated genes
  Encephalopathy, Spastic Tetraparesis, and Hypogonadism
  Ethylmalonic encephalopathy Has associated chemicals Has associated genes
  Hartnup Disease Has associated chemicals Has associated genes
View node Hepatolenticular Degeneration Has associated chemicals Has associated genes
View node Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes
  Homocarnosinosis Has associated chemicals Has associated genes
View node Homocystinuria Has associated chemicals Has associated genes
View node Tyrosinemias Has associated chemicals Has associated genes
View node Hyperglycinemia, Nonketotic Has associated chemicals Has associated genes
View node Hyperlysinemias Has associated chemicals Has associated genes
View node Leigh Disease Has associated chemicals Has associated genes
View node Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
View node Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes
View node Maple Syrup Urine Disease Has associated chemicals Has associated genes
View node MELAS Syndrome Has associated chemicals Has associated genes
View node Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
  MERRF Syndrome Has associated chemicals Has associated genes
  Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
  Microphthalmia and mental deficiency
View node Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
View node Phenylketonurias Has associated chemicals Has associated genes
View node Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
View node Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
View node Refsum Disease Has associated chemicals Has associated genes
  Refsum Disease, Infantile Has associated chemicals Has associated genes
  Silengo Lerone Pelizza syndrome
  Tricarboxylic Acid Cycle, Defect of
  Galactosemias Has associated chemicals Has associated genes
View node Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes
View node Zellweger Syndrome Has associated chemicals Has associated genes