Genetic Brain Disorders

Related topics on Genetics Home Reference:

• 2-hydroxyglutaric aciduria
• abetalipoproteinemia
• arginase deficiency
• aromatic l-amino acid decarboxylase deficiency
• beta-ketothiolase deficiency
• carbamoyl phosphate synthetase I deficiency
• citrullinemia
• Fabry disease
• fucosidosis
• galactosemia
• galactosialidosis
• Gaucher disease
• GLUT1 deficiency syndrome
• glutaric acidemia type I
• glycine encephalopathy
• GM2-gangliosidosis, AB variant
• homocystinuria
• hyperlysinemia
• Krabbe disease
• Lesch-Nyhan syndrome
• Lowe syndrome
• maple syrup urine disease
• Menkes syndrome
• metachromatic leukodystrophy
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mucolipidosis II alpha/beta
• mucolipidosis III alpha/beta
• mucolipidosis III gamma
• mucolipidosis type IV
• Niemann-Pick disease
• ornithine transcarbamylase deficiency
• phenylketonuria
• Pompe disease
• prion disease
• pyruvate carboxylase deficiency
• Sandhoff disease
• sialic acid storage disease
• succinic semialdehyde dehydrogenase deficiency
• Tay-Sachs disease
• tetrahydrobiopterin deficiency
• tyrosinemia
• Wilson disease
• X-linked adrenoleukodystrophy

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