Niemann-Pick disease laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The ﬁlipin test is currently the most sensitive and speciﬁc assay, and is the key diagnostic test for Niemann–Pick type C before going further into genetic testing.^[1]

Laboratory Findings

Diagnostic Algorithm for Niemann-Pick Disease

Skin biopsy

Filipin test

Highly positive

Moderately positive

Difficult interpretation

Clearly negative

Reassess clinical features

a priori, not NP-C

Kinetics of LDL-induced cholesteryl ester formation

NPC1 mutation p.P1007A and codon 992

Sequencing opf NPC1 and NPC2 gene

References

↑ Kheder, A.; Scott, C.; Olpin, S.; Hadjivassiliou, M. (2013). “Niemann-Pick type C: a potentially treatable disorder?”. Pract Neurol. doi:10.1136/practneurol-2013-000525. PMID 23906593. Unknown parameter |month= ignored (help)

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[Kheder-2013-1] Kheder, A.; Scott, C.; Olpin, S.; Hadjivassiliou, M. (2013). “Niemann-Pick type C: a potentially treatable disorder?”. Pract Neurol. doi:10.1136/practneurol-2013-000525. PMID 23906593. Unknown parameter |month= ignored (help)

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