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... 

Moussa M, Landrier JF, Reboul E, Ghiringhelli O, Comera C, Collet X, Frohlich K, Bohm V and Borel P. 2008. Lycopene absorption in human intestinal cells and in mice involves scavenger receptor class B type I but not Niemann-Pick Cl-like 1. J Nutr 138 1432-1436. 

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 Sphingomyelinase Sphingomyelin Hepatosplenomegaly Microcephaly, severe mental retardation Zebra bodies in inclusions Characteristic foamy macrophages Early death... 

Arora S, Beaudry C, Bisanz KM et al (2010) A high-content RNAi-screening assay to identify modulators of cholesterol accumulation in Niemann-Pick type C cells. Assay Drug Dev Technol 8 295-320... 

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. 

For the measurement of a-iduronidase activity, a novel substrate was developed that was detected by mass spectrometry. It was possible to combine this method with similar assays for Niemann-Pick type A/ , Krabbe, Gaucher, Pompe, and Fabry disease. However, separate incubation is necessary, and some additional work-up procedures are usually required to purify the sample before mass spectrophotomet-ric analysis [68]. 

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]. 

Cholesterol storage in lysosomes/endosomes is a hallmark of Niemann-Pick type C disease. The assay is based on the procedure described by Vanier et al. [58]. 

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