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Niemann-Pick disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The cDNA for sphingomyelinase has been cloned and sequenced [14, 15]. The gene has been mapped to chromosome 11 p15.1-p15.4 [16]. A number of mutations have been identified in both type A and type B patients [12, 17, 18]. Distinct mutations have been found in the ethnic groups in which Niemann-Pick disease is common.
Histiocytosis and Lipid Storage Diseases
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Salwa Shabbir Sheikh, David F. Garvin
Type C Niemann-Pick disease, which is under type 2 in the new classification system, has almost normal sphingomyelinase activity. It is considered to be a cholesterol lipidosis secondary to defective intracellular cholesterol transport and is a quite distinct entity from types A and B. Adult onset with splenomegaly in an otherwise healthy person, as in this case, is not uncommon in type C Niemann-Pick disease. Typical Niemann-Pick disease is an affliction of infancy. These infants during their first months of life gain weight poorly, and have developmental delays. During their second year the child is usually flaccid, with huge hepatosplenomegaly, lymphadenopathy, and skin and bone lesions. The typical disease has been designated as type A.
Lysosomal, sterol and lipid disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
The disorder is diagnosed by demonstration of reduced or absent enzyme activity in white blood cells and ibroblasts cultured from skin. Prenatal diagnosis and screening for carriers are available. Treatment for individuals with Niemann-Pick disease aims to provide relief of any symptoms and support in the care of the child. Genetic counselling may be of beneit to individuals afected by this disorder.
Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
Published in Expert Opinion on Pharmacotherapy, 2023
Tatiana Bremova-Ertl, Susanne Schneider
Niemann-Pick disease type C (NPC) is an autosomal recessive inherited neurovisceral lysosomal storage disease (LSD) caused by mutations in the NPC1 or NPC2 gene. NPC is characterized by impaired intracellular transport of endocytosed unesterified cholesterol, sphingomyelin, glycosphingolipids and sphingosine with their sequestration in lysosomes and late endosomes [1,2]. The accumulated cholesterol undergoes non-enzymatic oxidation, leading to a formation of oxysterols, including cholestane-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) [3,4]. They are used as blood-based biomarkers of NPC, together with certain plasma bile acids [5] (e.g. 3β,5α,6β-trihydroxycholanic acid) and certain lysosphingolipids [6] (e.g.lyso-SM-509), supplanting filipin staining as first-line diagnostics.
Chronic interstitial lung diseases in children: diagnosis approaches
Published in Expert Review of Respiratory Medicine, 2018
Nadia Nathan, Laura Berdah, Keren Borensztajn, Annick Clement
Several metabolic disorders can be associated with ILD. Among them, Gaucher’s disease, an autosomal recessive disease is the most common lysosomal storage diseases. It is caused by a genetic deficiency of the gluco-cerebrosidase lysosomal enzyme that catalyzes the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells. Niemann-Pick diseases (A, B, C) are rare genetic diseases primarily due to deficiency of sphingomyelinase resulting in the accumulation of sphingomyelin within lysosomes in the macrophage-monocyte phagocyte systems of multiple organs, mainly the brain, spleen, liver, lung, and bone marrow. Histology demonstrates lipid laden macrophages in the marrow, as well as ‘sea-blue histiocytes’ on pathology [48]. Hermansky-Pudlak syndrome is a heterogeneous group of autosomal recessive disorders associated with accumulation of a ceroid-like substance in lysosomes of a variety of tissues. It is characterized by albinism, bleeding tendency associated to poor platelet aggregation, and systemic complications associated to lysosomal dysfunction [49].
Glycogen synthase kinase 3 (GSK-3) inhibitors: a patent update (2016–2019)
Published in Expert Opinion on Therapeutic Patents, 2020
Carlos Roca, Nuria E. Campillo
Thanks to the capacity of the GSK-3 inhibitors to improve hematopoiesis and neural stem cell self-renewal and differentiation capability, Wuxi Hanquiang Pharmaceutical Tech Co LTD has claimed the use of GSK3 inhibitors in preparing a drug to treat Niemann-Pick disease type C (NPC) [57]. NPC disease is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. NPC is a rare genetic disease whose clinical spectrum ranges from a fatal antenatal disorder to an adult-onset chronic neurodegenerative disease [58]. Wuxi Hanquiang Pharmaceutical Tech Co LTD identified an abnormal increase of GSK3 activity associated with NPC. They showed that GSK3 inhibitors have a positive effect in treating Niemann-Pick disease type C.