Niemann-Pick Disease Overview
Learn About Niemann-Pick Disease
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Acid sphingomyelinase is responsible for the conversion of a fat (lipid) called sphingomyelin into another type of lipid called ceramide. Mutations in SMPD1 lead to a shortage of acid sphingomyelinase, which results in reduced break down of sphingomyelin, causing this fat to accumulate in cells. This fat buildup causes cells to malfunction and eventually die. Over time, cell loss impairs function of tissues and organs including the brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B.
Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Eugen Mengel practices in Hochheim, Germany. Mengel and is rated as an Elite expert by MediFind in the treatment of Niemann-Pick Disease. His top areas of expertise are Niemann-Pick Disease, Acid Sphingomyelinase Deficiency (ASMD), Non-Langerhans-Cell Histiocytosis, and Histiocytosis.
Mayo Clinic
Marc Patterson is a Neurologist and a Pediatrics provider in Rochester, Minnesota. Dr. Patterson and is rated as an Elite provider by MediFind in the treatment of Niemann-Pick Disease. His top areas of expertise are Niemann-Pick Disease, Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy, Gaucher Disease Type 3, and Leukodystrophy. Dr. Patterson is currently accepting new patients.
Forbes Porter is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Porter and is rated as an Elite provider by MediFind in the treatment of Niemann-Pick Disease. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.
Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for research on children. Two technologies-functional near-infrared spectroscopy (fNIRS) and diffuse correlation spectroscopy (DCS)-use light to detect changes in brain activity. These m...
Summary: This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rat...
Published Date: January 01, 2015
Published By: National Institutes of Health