2020年10月19日 · 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.

2024年1月30日 · Niemann-Pick disease is a group of rare conditions passed down in families. The conditions affect the body's ability to break down and use fats, such as cholesterol and lipids, inside cells. Because of the buildup of fats, these cells don't work as …

Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. These are inherited metabolic disorders in which sphingomyelin accumulates in lysosomes in cells of many organs.

Over time, cell loss impairs function of tissues and organs including the brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B. Mutations in either the NPC1 NPC2 gene cause Niemann-Pick disease type C. The proteins produced from these genes are involved in the movement of lipids within cells.

The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or …

Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease.

2010年10月11日 · Niemann was able to connect the infant’s disease to Gaucher’s disease because it displayed similar symptoms: a noticeable accumulation of fatty substances in the brain, liver, and spleen. In the 1920s, Ludwig Pick, a German pathologist, studied infants with similar lipid storage disorders, investigating the disease through autopsy and ...

Niemann-Pick type C disease (NPCD) was first described in 1914 and affects approximately 1 in 150 000 live births. It is characterized clinically by diverse symptoms affecting liver, spleen, motor control, and brain; premature death invariably results.

2019年9月6日 · In this review, we focus on Niemann–Pick disease type C1 (NPC1), which is a rare lipid-storage disorder. Lipids, in particular phospholipids, are a major component of the cell membrane and play important roles in cellular functions, such as extracellular receptor signaling, intracellular second messengers and cellular pressure regulation.

Niemann-Pick disease (NPD) is a rare, autosomal recessive lysosomal storage disorder characterized by a deficiency of acid sphingomyelinase, leading to the accumulation of sphingomyelin within cells and tissues.