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Brain Diseases, Metabolic, Inborn

More information in Books or onNLM PubMed
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.  General, prefer specifics; DF: BRAIN DIS METAB INBORN   
See Also Intellectual Disability
Examples Cerebral Amyloid Angiopathy, Familial; Galactosemias; Hartnup Disease; Hepatolenticular Degeneration; Hereditary Central Nervous System Demyelinating Diseases; Homocystinuria; Hyperglycinemia, Nonketotic; Hyperlysinemias; Leigh Disease; Lesch-Nyhan Syndrome; Lysosomal Storage Diseases, Nervous System; Maple Syrup Urine Disease; MELAS Syndrome; Menkes Kinky Hair Syndrome; MERRF Syndrome; Oculocerebrorenal Syndrome; Peroxisomal Disorders; Phenylketonurias; Pyruvate Carboxylase Deficiency Disease; Pyruvate Dehydrogenase Complex Deficiency Disease; Tyrosinemias; Urea Cycle Disorders, Inborn 		Other names Metabolic Disorders, Familial, Brain; Metabolic Disorders, CNS, Inborn; Metabolic Disorders, Brain, Inherited; Metabolic Diseases, Inborn, Central Nervous System; Metabolic Brain Syndrome, Inborn; Metabolic Brain Diseases, Inherited; Metabolic Brain Diseases, Inborn; Metabolic Brain Diseases, Familial; Inherited Metabolic Disorders, Brain; Inherited Metabolic Brain Diseases; Inborn Metabolic Disorders, Brain; Inborn Metabolic Brain Disorders; Inborn Metabolic Brain Diseases; Familial Metabolic Disorders, Brain; Encephalopathies, Metabolic, Inborn; Central Nervous System Inborn Metabolic Disorders; CNS Metabolic Disorders, Inborn; Brain Syndrome, Metabolic, Inborn; Brain Diseases, Metabolic, Inherited; Brain Diseases, Metabolic, Familial
 
SubstanceCAS Registry & nameCategoriesSource
Microphthalmia and mental deficiency  0   *Coloboma *Corneal Opacity *Microphthalmos *Intellectual Disability *Microcephaly *Brain Diseases, Metabolic, Inborn.
Silengo Lerone Pelizza syndrome  0   *Abnormalities, Multiple *Microcephaly *Optic Atrophy/congenital *Brain Diseases, Metabolic, Inborn Bone and Bones/abnormalities.
Ethylmalonic encephalopathy  0   *Purpura *Brain Diseases, Metabolic, Inborn.
Creatine deficiency, X-linked  0   *Brain Diseases, Metabolic, Inborn *Mental Retardation, X-Linked Creatine/deficiency Plasma Membrane Neurotransmitter Transport Proteins/deficiency.
2-Hydroxyglutaricaciduria  0   *Brain Diseases, Metabolic, Inborn.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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