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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.

Diagnosis and Tests

• Newborn Screening: MedlinePlus Health Topic (National Library of Medicine) Also in Spanish

Related Issues

• What Is a Pediatric Geneticist? (American Academy of Pediatrics) Also in Spanish

Specifics

• Birth Disorders of the Brain and Spinal Cord (National Institute of Neurological Disorders and Stroke)
• Fahr's Syndrome (National Institute of Neurological Disorders and Stroke)
• Gerstmann-Straussler-Scheinker Disease (National Institute of Neurological Disorders and Stroke)
• Leigh Syndrome (National Institute of Neurological Disorders and Stroke)
• Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke)
• Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke)
• Menkes Disease (National Institute of Neurological Disorders and Stroke)
• Mitochondrial DNA Depletion Syndrome (Alpers' Disease) (National Institute of Neurological Disorders and Stroke)
• Moyamoya Disease (National Institute of Neurological Disorders and Stroke)
• Neuronal Ceroid Lipofuscinosis (Batten Disease) (National Institute of Neurological Disorders and Stroke)
• What Is a Urea Cycle Disorder? (National Urea Cycle Disorders Foundation)

Genetics

• 2-hydroxyglutaric aciduria: MedlinePlus Genetics (National Library of Medicine)
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: MedlinePlus Genetics (National Library of Medicine)
• 3-methylcrotonyl-CoA carboxylase deficiency: MedlinePlus Genetics (National Library of Medicine)
• 3-methylglutaconyl-CoA hydratase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Adenylosuccinate lyase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Alpha-mannosidosis: MedlinePlus Genetics (National Library of Medicine)
• Alpha-methylacyl-CoA racemase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Aminoacylase 1 deficiency: MedlinePlus Genetics (National Library of Medicine)
• Arginase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Arginine:glycine amidinotransferase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Argininosuccinic aciduria: MedlinePlus Genetics (National Library of Medicine)
• Aromatic l-amino acid decarboxylase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Aspartylglucosaminuria: MedlinePlus Genetics (National Library of Medicine)
• Beta-ketothiolase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Beta-mannosidosis: MedlinePlus Genetics (National Library of Medicine)
• Biotinidase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Childhood myocerebrohepatopathy spectrum: MedlinePlus Genetics (National Library of Medicine)
• Citrullinemia: MedlinePlus Genetics (National Library of Medicine)
• Coats plus syndrome: MedlinePlus Genetics (National Library of Medicine)
• Combined malonic and methylmalonic aciduria: MedlinePlus Genetics (National Library of Medicine)
• Dentatorubral-pallidoluysian atrophy: MedlinePlus Genetics (National Library of Medicine)
• Deoxyguanosine kinase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Dihydrolipoamide dehydrogenase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Dihydropyrimidine dehydrogenase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Ethylmalonic encephalopathy: MedlinePlus Genetics (National Library of Medicine)
• Fabry disease: MedlinePlus Genetics (National Library of Medicine)
• Fragile X-associated tremor/ataxia syndrome: MedlinePlus Genetics (National Library of Medicine)
• Fucosidosis: MedlinePlus Genetics (National Library of Medicine)
• Fumarase deficiency: MedlinePlus Genetics (National Library of Medicine)
• GABA-transaminase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Galactosemia: MedlinePlus Genetics (National Library of Medicine)
• GLUT1 deficiency syndrome: MedlinePlus Genetics (National Library of Medicine)
• Glutamate formiminotransferase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Glutaric acidemia type I: MedlinePlus Genetics (National Library of Medicine)
• Glutathione synthetase deficiency: MedlinePlus Genetics (National Library of Medicine)
• GM1 gangliosidosis: MedlinePlus Genetics (National Library of Medicine)
• GRIN2B-related neurodevelopmental disorder: MedlinePlus Genetics (National Library of Medicine)
• Guanidinoacetate methyltransferase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Hypermethioninemia: MedlinePlus Genetics (National Library of Medicine)
• Hyperprolinemia: MedlinePlus Genetics (National Library of Medicine)
• Isovaleric acidemia: MedlinePlus Genetics (National Library of Medicine)
• L1 syndrome: MedlinePlus Genetics (National Library of Medicine)
• Leigh syndrome: MedlinePlus Genetics (National Library of Medicine)
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: MedlinePlus Genetics (National Library of Medicine)
• Malonyl-CoA decarboxylase deficiency: MedlinePlus Genetics (National Library of Medicine)
• MECP2-related severe neonatal encephalopathy: MedlinePlus Genetics (National Library of Medicine)
• MEGDEL syndrome: MedlinePlus Genetics (National Library of Medicine)
• Menkes syndrome: MedlinePlus Genetics (National Library of Medicine)
• Mitochondrial complex III deficiency: MedlinePlus Genetics (National Library of Medicine)
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: MedlinePlus Genetics (National Library of Medicine)
• Mitochondrial neurogastrointestinal encephalopathy disease: MedlinePlus Genetics (National Library of Medicine)
• Molybdenum cofactor deficiency: MedlinePlus Genetics (National Library of Medicine)
• Moyamoya disease: MedlinePlus Genetics (National Library of Medicine)
• Mucolipidosis type IV: MedlinePlus Genetics (National Library of Medicine)
• Mucopolysaccharidosis type I: MedlinePlus Genetics (National Library of Medicine)
• Mucopolysaccharidosis type II: MedlinePlus Genetics (National Library of Medicine)
• Mucopolysaccharidosis type III: MedlinePlus Genetics (National Library of Medicine)
• Multiple sulfatase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Myoclonic epilepsy with ragged-red fibers: MedlinePlus Genetics (National Library of Medicine)
• N-acetylglutamate synthase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart: MedlinePlus Genetics (National Library of Medicine)
• Niemann-Pick disease: MedlinePlus Genetics (National Library of Medicine)
• Nonketotic hyperglycinemia: MedlinePlus Genetics (National Library of Medicine)
• Ornithine transcarbamylase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Phosphoglycerate dehydrogenase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Phosphoglycerate kinase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Phosphoribosylpyrophosphate synthetase superactivity: MedlinePlus Genetics (National Library of Medicine)
• PMM2-congenital disorder of glycosylation: MedlinePlus Genetics (National Library of Medicine)
• Prion disease: MedlinePlus Genetics (National Library of Medicine)
• Prolidase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Pyruvate dehydrogenase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Schindler disease: MedlinePlus Genetics (National Library of Medicine)
• Short/branched chain acyl-CoA dehydrogenase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Sialic acid storage disease: MedlinePlus Genetics (National Library of Medicine)
• Succinic semialdehyde dehydrogenase deficiency: MedlinePlus Genetics (National Library of Medicine)
• X-linked creatine deficiency: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Brain Diseases, Metabolic, Inborn (National Institutes of Health)
• ClinicalTrials.gov: Niemann-Pick Diseases (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Dodecyl creatine ester therapy: from promise to reality.
• Article: SLC6A8 creatine transporter deficiency can be detected by plasma creatine and...
• Article: Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine...
• Genetic Brain Disorders -- see more articles

Find an Expert

• Genetic and Rare Diseases Information Center
• National Institute of Neurological Disorders and Stroke Also in Spanish

Children

• Maple Syrup Urine Disease (For Parents) (Nemours Foundation) Also in Spanish

Patient Handouts

• Lesch-Nyhan syndrome (Medical Encyclopedia) Also in Spanish
• Maple syrup urine disease (Medical Encyclopedia) Also in Spanish
• Menkes disease (Medical Encyclopedia) Also in Spanish
• Neuronal ceroid lipofuscinoses (NCL) (Medical Encyclopedia) Also in Spanish
• Niemann-Pick disease (Medical Encyclopedia) Also in Spanish