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Type C is the most common form of the disease [3] Type C2 is a rare form of the disease. [9] Niemann–Pick disease type D (or Nova Scotia form) is now believed to be the same condition as Niemann–Pick disease type C. [10] Two poorly characterized forms of Niemann–Pick disease have also been described as types E and F. [11]
Progressive neurological disease is the hallmark of Niemann–Pick type C disease, and is responsible for disability and premature death in all cases beyond early childhood. [5] Classically, children with NPC may initially present with delays in reaching normal developmental milestones skills before manifesting cognitive decline .
The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive.
Niemann-Pick disease type C (NPC) is a rare genetic disorder that affects the nervous system and other organs, causing physical and mental disabilities such as speech issues, difficulties with ...
The most common side events include infections, infusion-related reactions, or gastrointestinal complaints (disease signs and symptoms in children). [5] [7] Historically referred to as Niemann-Pick disease types A (NPD A) and B (NPD B), acid sphingomyelinase deficiency is a genetic disorder. [5]
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
Features of FTD were first described by Arnold Pick between 1892 and 1906. [5] The name Pick's disease was coined in 1922. [6] This term is now reserved only for the behavioral variant of FTD, in which characteristic Pick bodies and Pick cells are present. [7] [8] These were first described by Alois Alzheimer in 1911. [6]
Niemann-Pick disease, type C is a rare disorder that results in the over accumulation of lipids and cholesterol in different types of tissues in the body due to this protein being ubiquitous. [4] [5] Symptoms vary per individual and can be fatal at birth or go undiagnosed up until adulthood. [3]