Nonketotic Hyperglycinemia (NKH)

 

Click Here for More Information

 

 

 

Fiona and Friends

Fitzpatrick and Nohelty Families

www.supporting.nd.edu/fionafund


 

 

Sarb Family

 

Rare Disease Day 2016

 

Niemann-Pick Disease

 

Niemann-Pick Disease (NP) refers to a group of rare inherited lipid storage diseases in which harmful quantities of fatty substances (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.

Niemann-Pick, Type C (NP-C) is one of these genetic diseases and can occur in any community. It causes abnormal accumulation of cholesterol in cells of the body. Symptoms of NP-C include deterioration of memory and balance, seizures, lung and liver failure. The disease usually appears in early childhood. Currently, there is no cure, but supportive therapies are available and research is advancing.

 

Click Here for More Information

 

Of Interest...