Diseases Niemann-Pick disease

The deficiency of any lysosomal enzyme results in accumulation of its substrate in lysosomes. Some of these diseases include Hurler syndrome, Hunter syndrome, I-cell disease, Niemann-Pick disease,... 

Cystine storage disease Gaucher s disease Glycogen stora ge disease Juvenile, Tay-Sachs disease Niemann-Pick disease Tay-Sachs disease Chronic renal failure Hemolytic-uremic syndrome Nephrotic syndrome Benign recurrent intrahepatic cholestasis... 

Niemann-Pick disease Niemann-Pick disease is an autosomal recessive disorder affect-... 

Other lysosomal storage disorders include G j gangliosidoses, G gangliosidoses, Gaucher disease, Niemann-Pick disease, Fabry disease, fucosidosis, Schindler disease, metachromatic leukodystrophy, Krabbe disease, multiple sulfatase deficiency, Farber disease, and Wolman disease. Table 28-1 illustrates the enzyme deficiencies found in some of these disorders. 

Infantile Amaurotic Familial Idiocy (Tay-Sachs Disease) Gaucher s Disease Niemann-Pick Disease Leukodystrophies and Fabry s Disease... 

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... 

Otterbach, B., and Stoffel, W., 1995, Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick). Cell 81 1053-1061. 

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... 

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. 

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