Genetic Brain Disorders Summary A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain. Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors. Some examples of genetic brain disorders include Leukodystrophies Phenylketonuria Tay-Sachs disease Wilson disease Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening. National Institute of Neurological Disorders and Stroke Specifics Aicardi Syndrome National Institute of Neurological Disorders and Stroke Alpers’ Disease National Institute of Neurological Disorders and Stroke Barth Syndrome (BTHS) National Institute of Neurological Disorders and Stroke Batten Disease National Institute of Neurological Disorders and Stroke Batten Disease National Institute of Neurological Disorders and Stroke Colpocephaly National Institute of Neurological Disorders and Stroke Fabry’s Disease National Institute of Neurological Disorders and Stroke Fahr’s Syndrome National Institute of Neurological Disorders and Stroke Galactosemia American Liver Foundation Gerstmann-Straussler-Scheinker Disease National Institute of Neurological Disorders and Stroke Leigh’s Disease National Institute of Neurological Disorders and Stroke Lesch-Nyhan Syndrome National Institute of Neurological Disorders and Stroke Menkes Disease National Institute of Neurological Disorders and Stroke Menkes Disease National Institute of Child Health and Human Development Moyamoya Disease National Institute of Neurological Disorders and Stroke Niemann-Pick Disease National Institute of Neurological Disorders and Stroke What Is a Urea Cycle Disorder? National Urea Cycle Disorders Foundation What Is Batten Disease Batten Disease Support and Research Association Zellweger Syndrome National Institute of Neurological Disorders and Stroke Clinical Trials ClinicalTrials.gov: Brain Diseases, Metabolic, Inborn National Institutes of Health ClinicalTrials.gov: Niemann-Pick Diseases National Institutes of Health Encyclopedia Galactose-1-phospate uridyltransferase Galactosemia Find an Expert Genetic and Rare Diseases Information Center Genetic and Rare Diseases Information Center National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke Genetics Genetics Home Reference: 17β-hydroxysteroid dehydrogenase type 10 deficiency National Library of Medicine Genetics Home Reference: 2-hydroxyglutaric aciduria National Library of Medicine Genetics Home Reference: 2-methylbutyryl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency National Library of Medicine Genetics Home Reference: 3-methylcrotonyl-CoA carboxylase deficiency National Library of Medicine Genetics Home Reference: 3-methylglutaconyl-CoA hydratase deficiency National Library of Medicine Genetics Home Reference: adenylosuccinate lyase deficiency National Library of Medicine Genetics Home Reference: Alpers-Huttenlocher syndrome National Library of Medicine Genetics Home Reference: alpha-mannosidosis National Library of Medicine Genetics Home Reference: alpha-methylacyl-CoA racemase deficiency National Library of Medicine Genetics Home Reference: aminoacylase 1 deficiency National Library of Medicine Genetics Home Reference: arginase deficiency National Library of Medicine Genetics Home Reference: arginine:glycine amidinotransferase deficiency National Library of Medicine Genetics Home Reference: argininosuccinic aciduria National Library of Medicine Genetics Home Reference: aromatic l-amino acid decarboxylase deficiency National Library of Medicine Genetics Home Reference: aspartylglucosaminuria National Library of Medicine Genetics Home Reference: ataxia neuropathy spectrum National Library of Medicine Genetics Home Reference: beta-ketothiolase deficiency National Library of Medicine Genetics Home Reference: beta-mannosidosis National Library of Medicine Genetics Home Reference: biotinidase deficiency National Library of Medicine Genetics Home Reference: carbamoyl phosphate synthetase I deficiency National Library of Medicine Genetics Home Reference: cerebrotendinous xanthomatosis National Library of Medicine Genetics Home Reference: childhood myocerebrohepatopathy spectrum National Library of Medicine Genetics Home Reference: citrullinemia National Library of Medicine Genetics Home Reference: Coats plus syndrome National Library of Medicine Genetics Home Reference: combined malonic and methylmalonic aciduria National Library of Medicine Genetics Home Reference: dentatorubral-pallidoluysian atrophy National Library of Medicine Genetics Home Reference: deoxyguanosine kinase deficiency National Library of Medicine Genetics Home Reference: dihydrolipoamide dehydrogenase deficiency National Library of Medicine Genetics Home Reference: dihydropyrimidine dehydrogenase deficiency National Library of Medicine Genetics Home Reference: ethylmalonic encephalopathy National Library of Medicine Genetics Home Reference: Fabry disease National Library of Medicine Genetics Home Reference: fragile X-associated tremor/ataxia syndrome National Library of Medicine Genetics Home Reference: fucosidosis National Library of Medicine Genetics Home Reference: fumarase deficiency National Library of Medicine Genetics Home Reference: galactosemia National Library of Medicine Genetics Home Reference: GLUT1 deficiency syndrome National Library of Medicine Genetics Home Reference: glutamate formiminotransferase deficiency National Library of Medicine Genetics Home Reference: glutaric acidemia type I National Library of Medicine Genetics Home Reference: glutathione synthetase deficiency National Library of Medicine Genetics Home Reference: glycine encephalopathy National Library of Medicine Genetics Home Reference: GM1 gangliosidosis National Library of Medicine Genetics Home Reference: guanidinoacetate methyltransferase deficiency National Library of Medicine Genetics Home Reference: holocarboxylase synthetase deficiency National Library of Medicine Genetics Home Reference: hypermethioninemia National Library of Medicine Genetics Home Reference: hyperprolinemia National Library of Medicine Genetics Home Reference: isovaleric acidemia National Library of Medicine Genetics Home Reference: L1 syndrome National Library of Medicine Genetics Home Reference: Leigh syndrome National Library of Medicine Genetics Home Reference: leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation National Library of Medicine Genetics Home Reference: malonyl-CoA decarboxylase deficiency National Library of Medicine Genetics Home Reference: maple syrup urine disease National Library of Medicine Genetics Home Reference: MECP2-related severe neonatal encephalopathy National Library of Medicine Genetics Home Reference: MEGDEL syndrome National Library of Medicine Genetics Home Reference: Menkes syndrome National Library of Medicine Genetics Home Reference: mitochondrial complex III deficiency National Library of Medicine Genetics Home Reference: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes National Library of Medicine Genetics Home Reference: mitochondrial neurogastrointestinal encephalopathy disease National Library of Medicine Genetics Home Reference: molybdenum cofactor deficiency National Library of Medicine Genetics Home Reference: moyamoya disease National Library of Medicine Genetics Home Reference: mucolipidosis type IV National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type I National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type II National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type III National Library of Medicine Genetics Home Reference: multiple sulfatase deficiency National Library of Medicine Genetics Home Reference: myoclonic epilepsy with ragged-red fibers National Library of Medicine Genetics Home Reference: N-acetylglutamate synthase deficiency National Library of Medicine Genetics Home Reference: Niemann-Pick disease National Library of Medicine Genetics Home Reference: ornithine transcarbamylase deficiency National Library of Medicine Genetics Home Reference: ornithine translocase deficiency National Library of Medicine Genetics Home Reference: phosphoglycerate dehydrogenase deficiency National Library of Medicine Genetics Home Reference: phosphoglycerate kinase deficiency National Library of Medicine Genetics Home Reference: phosphoribosylpyrophosphate synthetase superactivity National Library of Medicine Genetics Home Reference: PMM2-congenital disorder of glycosylation National Library of Medicine Genetics Home Reference: prion disease National Library of Medicine Genetics Home Reference: prolidase deficiency National Library of Medicine Genetics Home Reference: propionic acidemia National Library of Medicine Genetics Home Reference: pyruvate carboxylase deficiency National Library of Medicine Genetics Home Reference: pyruvate dehydrogenase deficiency National Library of Medicine Genetics Home Reference: Schindler disease National Library of Medicine Genetics Home Reference: sialic acid storage disease National Library of Medicine Genetics Home Reference: succinic semialdehyde dehydrogenase deficiency National Library of Medicine Genetics Home Reference: X-linked creatine deficiency National Library of Medicine Diagnosis and Tests How Do Health Care Providers Diagnose Menkes Disease? National Institute of Child Health and Human Development MedlinePlus: Newborn Screening National Library of Medicine Array Lesch-Nyhan syndrome Maple syrup urine disease Menkes syndrome Neuronal ceroid lipofuscinoses (NCLS) Niemann-Pick disease Journal Articles Genetic Brain Disorders Videos and Tutorials Treating Moyamoya Disease OR-Live Related Issues What Is a Pediatric Geneticist? American Academy of Pediatrics
