Alpers'' Disease Information Page
... Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in li...

Cerebellar Degeneration Information Page
... Cerebellar degeneration is a disease process in which neurons in the cerebellum - the area of the brain that controls muscle coordination and balance - deteriorate and die. Diseases that cause cerebel...

Fabry''s Disease Information Page
... Fabry disease is a lipid storage disorder caused by the deficiency of an enzyme involved in the biodegradation of fats. The enzyme is known as ceramidetrihexosidase, also called alpha-galactosidase A....

Fahr''s Syndrome Information Page
... Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal gang...

Gerstmann-Straussler-Scheinker Disease Information Page
... Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the di...

Refsum Disease Information Page
... Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibers in the brain. R...

Joubert Syndrome Information Page
... Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common f...

Leigh''s Disease Information Page
... Leigh's disease is a rare inherited neurometabolic disorder characterized by degeneration of the central nervous system. Leigh's disease can be caused by mutations in mitochondrial DNA or by d...

Lesch-Nyhan Syndrome Information Page
... Lesch-Nyhan syndrome (LNS) is a rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. It is an X-linked recessive disease, and the gene ha...

Menkes Disease Information Page
... Menkes Disease is caused by a defective gene that regulates the metabolism of copper in the body. Because it is an X-linked gene, the disease primarily affects male infants. Copper accumulates at abno...

Mitochondrial Myopathies Information Page
... Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria-small, energy-producing structures found in every cell in the body that serve as the cells' "pow...

Moyamoya Disease Information Page
... Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing or occlusion of major blood vessels leading into the brain, and the formation of abnormal blood vessels ...

Niemann-Pick Disease Information Page
... Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some people, the brain. The d...

Zellweger Syndrome Information Page
... Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of th...

Genes and Disease: Glucose galactose malabsorption
... Glucose Galactose Malabsorption (GGM) is a rare metabolic disorder caused by a defect in glucose and galactose transport across the intestinal lining. GGM is characterized by severe diarrhea and dehyd...

Genes and Disease: Refsum disease
... Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. Symptoms may include a degenerative nerve disease (peripheral neuropathy), failure of muscle coordination ...

Genes and Disease: Zellweger syndrome
... Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death. Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blo...

Fabry disease
... Fabry disease is an inherited disorder caused by the buildup of a particular type of fat (lipid) in the body's cells. This buildup results in pain, particularly in the hands and feet; clusters of ...

Galactosemia
... Galactosemia is a disorder that affects how the body processes certain sugars (sugar metabolism). This condition results when the body is not able to process the sugar galactose, which is found in man...

Lesch-Nyhan syndrome
... Lesch-Nyhan syndrome is a condition characterized by the overproduction of uric acid (a chemical formed from the breakdown of DNA or RNA), problems with the nervous system, and behavioral disturbances...

Menkes syndrome
... Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Onset of Menkes syndrome t...

Genes and Disease: Maple syrup urine disease
... Maple Syrup Urine Disease (MSUD) is an inherited disorder so named because one of its first signs is urine that has an odor reminiscent of maple syrup. The underlying defect disrupts the metabolism of...

Genes and Disease: Menkes syndrome
... Menkes syndrome is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. The disorder causes severe cerebral degeneration and arterial changes, resulting in de...

Maple syrup urine disease
... Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. From early infancy, the condition is character...