Niemann-Pick+Disease

=Niemann- Pick Disease=
 * Niemann-Pick Disease is an inherited metabolic disorder
 * Caused by a mutation in the NPC1, NPC2 and the SMPD1 genes
 * It involves an abnormality in the ability to break down, transport, and use fats and cholesterol in the body

(example of a lipid) > (Liver)
 * This causes harmful amounts of lipids to build up in the spleen, liver, lungs, bone marrow, and brain
 * Symptoms may include:
 * lack of muscle coordination
 * brain degeneration
 * learning problems
 * loss of muscle tone
 * increased sensitivity to touch
 * feeding and swallowing difficulties
 * slurred speech
 * enlarged liver or spleen
 * The probability someone will inherit this disease is 1 in every 250,000
 * Niemann-Pick Disease is divided into four main types, A, B, C1, and C2

(Types) Click on the picture above to view information on the types of Niemann- Pick Disease

=**Newborn Screening**=

//"//Niemann-Pick Disease" //Genetics Home Reference//. N.p., 6 June 2011. Web. 8 June 2011. [].

"Niemann- Pick Disease." //National Institute of Neurological Disorders and// //Stroke//. N.p., 27 Oct. 2010. Web. 4 June 2011. [].

"Niemann- Pick Disease." //Wikipedia//. N.p., 4 June 2011. Web. 5 June 2011. [].