Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system.
Niemann-Pick disease type A/B (NPD-A or NPD-B), also known as acid sphingomyelinase (ASM) deficiency, is caused by the body not being able to break down lipids (fatty acids) properly. This can cause liver, spleen and lung damage, trouble with movement, poor growth (failure to thrive) and a red spot in the eye.
Niemann-Pick disease (NPD) is a lysosomal storage disease caused by acid sphingomyelinase deficiency (ASMD), which catalyzes the hydrolysis of sphingomyelin (SM) to ceramide and phosphocholine. As a result, SM and its precursor lipids begin to accumulate in lysosomes, mainly in macrophages.
Summary. Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue.
The name Niemann-Pick derives from two German pediatricians: Albert Niemann, the first doctor to identify the Type A form of the disease in 1914, and Ludwick Pick, who first identified the Type B form of the disease in 1927.
What causes Pick's disease? Pick's disease, along with other FTDs, is caused by abnormal amounts or types of nerve cell proteins, called tau. These proteins are found in all of your nerve cells. If you have Pick's disease, they often accumulate into spherical clumps, known as Pick bodies or Pick cells.
While there's some evidence people can inherit the disease or pass it on to their children, most cases of Pick's disease aren't inherited.
Prenatal testing. Ultrasound can detect the enlarged liver and spleen that's caused by type C. And amniocentesis or chorionic villus sampling may be used to confirm a diagnosis of Niemann-Pick.
Niemann-Pick disease type C (often shortened to NPC) is a very rare, inherited disease that causes damage to the nervous system over time. It results from an abnormal processing in body tissues of fatty substances (called lipids), particularly cholesterol.
Visceral and neurological manifestations in Niemann–Pick type C disease. Reprinted from Patterson et al,4 copyright 2012, with permission from Elsevier. Patients with adolescent/adult-onset NP-C have a neuropsychiatric disease involving varying degrees of cognitive decline, psychiatric and neurological symptoms.
Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis") is a very rare autosomal recessive:561 lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.:502 It is similar to mucopolysaccharidosis.
The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code E75.24. Click on any term below to browse the alphabetical index.