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Genetic Brain Disorders |
BCKD deficiency; Brain Disorders, Inborn Genetic; Branched-chain alpha-keto acid dehydrogenase deficiency; Branched-Chain Ketoaciduria; Ketoacidemia; Maple Syrup Urine Disease; MSUD |
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 characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated. Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and most severe form of the disease is the classic type, which appears soon after birth. Variant forms of the disorder appear later in infancy or childhood and are typically less severe, but still involve mental and physical retardation if not treated.
... 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 characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated.
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and most severe form of the disease is the classic type, which appears soon after birth. Variant forms of the disorder appear later in infancy or childhood and are typically less severe, but still involve mental and physical retardation if not treated. ...
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disord ...
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Genetic Brain Disorders Other1-2 of 24 more...
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...
Source: National Institute of Neurological Disorders and Stroke
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...
Source: National Institute of Neurological Disorders and Stroke
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Genetic Brain Disorders Articles
- 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 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 ... - 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... - 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... - 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: 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... - 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 ...
Resources
- Alpers' Disease (National Institute of Neurological Disorders and Stroke)
- Brain and Nervous System Definitions (Mayo Foundation for Medical Education and Research)
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