Niemann Pick Type C

By: Chris Bohl

Description
Niemann Pick type C (NPC) is a rare,
inherited neurodegenerative disorder
caused by an intracellular lipid-trafficking
defect.
Although the disease can be present at any
age, most cases occur before the age of 10.
It is a progressive disease

Cause

The gene is autosomal recessive

Not sex linked
A nondisjunction in the genes
Inherited
It occurs when the body cannot properly break down
cholesterol and other lipids. This leads to too much
cholesterol in the liver and spleen and too much of other
lipids in the brain.
SMPD1gene is affected.

Facts
Occurs in 1 in 125,000 people world wide
It is not Gender linked
It is most common in middle and eastern
European heredity
It occurs mainly in children and it is fatal so
most patients die before reaching ten and
rarely living until twenty

Symptoms
Abdominal swelling
Red spot in the eye
Feeding dificulties
Loss of motor skills

Testing and Screening

A skin biopsy
Bone marrow aspiration
Liver biopsy(usually not needed)
Slit-lamp eye exam
Sphingomyelinase assays

Treatments
No treatments
Fatal

Cool Facts
Other names are lipid histiocytosis,
neuronal cholesterol lipidosis, neuronal
lipidosis, NPD, sphingomyelinase deficiency,
sphingomyelin/cholesterol lipidosis,
sphingomyelin lipidosis.
This can prevent your eyes from moving
vertically, but not horizontally.

Diagram

Citations

http://www.ninds.nih.gov/disorders/lipid_storage_diseases/d
etail_lipid_storage_diseases.htm
http://ghr.nlm.nih.gov/condition/niemann-pick-disease
https://www.nlm.nih.gov/medlineplus/ency/article/001207.h
tm
http://www.ncbi.nlm.nih.gov/books/NBK1296/