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Classical Niemann-Pick Disease; DAF syndrome; lipoid histiocytosis (classical phosphatide); Neuronal Cholesterol Lipidos... |
BCKD deficiency; Brain Disorders, Inborn Genetic; Branched-chain alpha-keto acid dehydrogenase deficiency; Branched-Chai... | |
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Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. This disorder is divided into four main types based on the genetic cause and the signs and symptoms exhibited by the patient. Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to thriv... 
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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 ur...
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Niemann-Pick Disease as related to Genetic Brain Disorders
- Niemann-Pick disease - Wikipedia, the free encyclopedia
... bone marrow , and brain . There are three variants of Niemann-Pick disease based on the genetic cause and the symptoms ... Metabolic disorders | Neurology | Genetic disorders | ...
- MedlinePlus: Genetic Brain Disorders
... Tay-Sachs disease , and Wilson disease . Many people with genetic brain disorders fail to produce enough of ... Short Summary; Niemann-Pick Disease Overview (National Niemann-Pick Disease ...
- Niemann-Pick disease - Psychology Wiki
Niemann-Pick disease is an inherited ... bone marrow, and brain . There are three variants of Niemann-Pick disease based on the genetic cause ... Eponymous diseases | Genetic disorders ...
- GENETIC DISORDERS - Niemann-Pick Disease
... Niemann-Pick Disease ... brain. This disorder is divided into four main types based on the genetic cause and the signs and symptoms exhibited by the patient. Type A Niemann-Pick disease ...
- Niemann-Pick Disease Type C -- GeneReviews -- NCBI Bookshelf
... of skin, rectal neurons, liver, or brain ... The term Niemann-Pick disease type D describes a genetic isolate from Nova Scotia ... inheritance, and implications of genetic disorders to ...
- Niemann-Pick disease: Definition and Much More from Answers.com
Niemann-Pick disease ( ′nē ... Disorders and Stroke. NINDS Niemann-Pick Disease Information ... brain . There are three variants of Niemann-Pick disease based on the genetic cause and the ...
- Genetic counseling: Niemann-Pick Disease - Psychology Wiki
Genetic counseling: Niemann-Pick Disease ... Natural History What is Niemann-Pick disease? A group of rare inherited disorders ... that accumulates in the brain ...
- Niemann-Pick Disease
Niemann-Pick Disease ... group of inherited storage disorders has progressed. The genetic sources of Niemann-Pick ... Ted Kennedy diagnosed with brain ...
- Niemann-Pick Disease
... brain. There are four main types of Niemann-Pick disease: ... genetic testing and prenatal diagnosis. If you have Niemann-Pick disease ... Disorders and Stroke http://www.ninds.nih.gov. National Niemann-Pick Disease ...
- Niemann-Pick Disease Type A
Niemann-Pick Type A disease is a severe neurodegenerative disorder of infancy. ... spleen, lymph nodes, and brain.
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