Medical Health Encyclopedia

Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Niemann-Pick foamy cells
Overview Symptoms Treatment Prevention
Niemann-Pick
Alternative Names: Sphingomyelinase deficiency (type A Niemann-Pick disease) Treatment: For Types A and B Niemann-Pick, the ASM gene has been isolated and extensively studied. DNA testing and prenatal diagnosis is currently available. Text Continues Below Research into treatments for types A and B has progressed rapidly since the early 1990s. Mount Sinai School of Medicine is conducting research on bone marrow transplantation, enzyme replacement therapy, and gene therapy. All of these therapies have had some success against type B Niemann-Pick in a laboratory environment. Unfortunately, none of the potential therapies has been effective against type A. No specific treatment is available for type C Niemann-Pick. A healthy, low-cholesterol diet is recommended, although research into low-cholesterol diets and cholesterol-lowering drugs does not indicate that these halt the progress of the disease or change cholesterol metabolism at the cellular level. Additionally, many type C symptoms, such as cataplexy and seizures, can be controlled or tempered by drugs. The National Niemann-Pick Disease Foundation website has more in-depth reporting on the research into potential treatments. Support Groups: The National Niemann-Pick Disease Foundation, 877-287-3672 Expectations (prognosis): Although types A and B are both caused by the same enzymatic deficiency, the clinical prognosis for these two groups of patients is very different. Page:  1 | 2 | Next >>