Little is known about this rare type of Niemann-Pick disease
The National Niemann-Pick Disease
Foundation supports and promotes research to find treatments and a cure, and provides support services for children and families.
Lysosomal storage Gaucher's disease, disorders Niemann-Pick disease
Disorders of lipid Fatty acid Oxidation metabolism Defects, Sphingolipidoses Mitochondrial Kearns-Sayre syndrome disorders Peroxisomal Zellweger syndrome, disorders Adreno leucodystrophy Trace metal Menke's Kinky Hair disorders syndrome, Wilson's disease Chart 1: Provisional diagnosis No diagnosis 1 Hypothyroidism 2 Wilsons disease 1 Pyrexia for evaluation 1 Inborn errors of metabolism 14 Hepatomegaly for evaluation 7 Hematological Malignancy 1 Hemolytic anemia 6 Note: Table made from bar graph.
Key words: Niemann-Pick disease
, hemophagocytic syndrome, hemophagocytosis by Niemann-Pick cell, hemophagocytosis, hemophagocytic lymphohistiocytosis, HLH
Toni, who is now the national development manager of the Niemann-Pick Disease
Group, spends every day helping families in similar positions.
type C leads to a build-up of cholesterol and fatty acids in the body's cells and causes progressive decline.
Moazam has a rare genetic disorder called Niemann-Pick disease
The event has been organised by Wearside charity the Children's Hope Foundation, which will be one of the beneficiaries alongside the Sunshine Fund, Just for Kids and the Niemann-Pick Disease
Group ( which does research into a rare genetic condition.
5) Other coexisting conditions that have been reported in single cases of patients with juvenile xanthogranuloma include insulindependent diabetes mellitus, urticaria pigmentosa, Niemann-Pick disease
, cytomegalovirus infection, and ingestion of oral contraceptives.
There is a pipeline of treatments that will soon become available for a variety of rare, lysosomal storage diseases," such as Niemann-Pick disease
and Pompe's disease, Dr.
Proposals were received from the Gaucher, MPS, Fabry, Pompe, and Niemann-Pick disease
communities as well as several other rare disease patient organizations.
Vtesse was launched in 2015 by Cydan and the National Center for Advancing Translations Sciences (NCATS) at the National Institutes of Health (NIH) to advance its orphan drug candidate, VTS-270, for the treatment of Niemann-Pick Disease
Type C (NPC).