Diseases Niemann-Pick

Niemann-Pick disease Sphingomyeiinase Cer-i-P—choline Sphingomyelin Enlarged liver and spleen, mental retardation fatal in early life. 

Cataplexy and cataplexy-like symptoms Moderate (60) High (80) Infrequent association with Niemann-Pick disease, Norrie disease, or brain tumors Variable severity diagnosed clinically or electrophysiologically... 

Niemann-Pick disease C type 2 Gmj activator protein deficiency Sphingolipid activator protein deficiency... 

Neuronal ceroid lipofuscinosis (CNL5) Danon s disease (LAMP-2 deficiency) Niemann-Pick disease C type 1 Cystinosis... 

MCI mild cognitive impairment NPC Niemann-Pick disease type C... 

NIEMANN-PICK DISEASE ACID SPHINGOMYELINASE DEFICIENCY... 

In patients with Niemann-Pick disease, inherited deficiency of this enzyme causes spingomyelin to accumulate in lysosomes of the brain, bone marrow, and other organs. 

NPC1 Niemann-Pick disease type Cl, NPC2 Niemann-Pick disease type C2, OMIM Online Mendelian Inheritance in Man, P plasma, U urine... 

This enzyme is increased in Gaucher disease and may also be increased, but to a lesser extent, in other sphingolipidoses such as Niemann-Pick disease type A/ and NPC, Krabbe disease, and GM1-gangliosidosis. The assay is based on the method described by Hollak et al. [22] and Guo et al. [17]. 

This enzyme is deficient in Niemann-Pick disease type A/ (Table 4.4.1, Fig. 4.4.1). The assay with radioactive natural substrate is based on the method described by Wenger [59]. The assay with fluorescent substrate is based on the method described by van Diggelen et al. [54]. These assays have not yet been validated in the authors laboratory for use with dried blood spots. For this application the reader is referred to Chamoles et al. [9]. 

Chamoles NA, Blanco M, Gaggiolo D, Casentini C (2002) Gaucher and Niemann-Pick diseases - enzymatic diagnosis in dried blood spots on filter paper retrospective diagnoses in newborn-screening cards. Clin Chim Acta 317 191-197... 

Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, Brady RO (1985) A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci U S A 82 8247-8251... 

Ries M, Schaefer E, Liihrs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A, Beck M, Mengel E (2006) Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/ and C. J Inherit Metab Dis 29 647-652... 

Vanier MT, Rodriguez-Lafrasse C, Rousson R, Gazzah N, Juge M-C, Pentchev PG, Revol A, Louisot P (1991) Type C Niemann-Pick disease spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096 328-337... 

Wenger DA (1977) Niemann-Pick disease. In Glew RH, Peters SP (eds) Practical Enzymology of the Sphingolipidose. AR Liss, New York, pp 39-70... 

However, very low plasma levels of HDL cholesterol are also found in patients with genetically disturbed metabolic pathways that are indirectly linked to HDL metabolism. For example, many patients with lipid storage diseases like Gaucher s disease (glucocerobrosidase deficiency, OMIM 230800-231000), Nieman-Pick disease types A or (sphingomyelinase deficiency, OMIM 257200 and 607616, respectively), Niemann-Pick disease type C (OMIM 257220), hypertriglyceridemia, or diabetes mellitus present with low HDL cholesterol [22]. 

Niemann-Pick disease. Kolodny, E.H. (2000). Curr Opin Hematol, 7 1 48-52. [647919] Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology. Shihabuddin, L.S., Numan, S., Huff, M.R., Dodge, J.C., Clarke, J., Macauley, S.L., Yang, W., Taksir, T.V., Parsons, G., Passini, M.A., Gage, F.H., Stewart, G.R. (2004). J Neurosci, 24 (47) 10642-10651. 

Accumulation of lipids in spleen cells from a patient with Niemann-Pick disease. 

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