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Technical
IVT
lysosomal storage disorder
Genetic conditions caused by lysosomal enzyme deficiencies, some of which are included in newborn screening panels.
Full Definition
A group of inherited metabolic disorders resulting from deficiencies in lysosomal enzymes, leading to accumulation of undegraded substrates within cells. Examples included in some newborn screening programs include Pompe disease, Fabry disease, Gaucher disease, and mucopolysaccharidosis type I. These conditions can cause progressive organ dysfunction and may benefit from early detection and treatment with enzyme replacement therapy or other interventions.
Usage
Usage note: May be abbreviated as LSD in clinical contexts, but spell out in patient materials.
In Context
- "The expanded screening panel now includes several lysosomal storage disorders." — Program update notice
- "Early identification of lysosomal storage disorders may improve treatment outcomes." — Research publication
Also known as
LSD
Don't confuse with
glycogen storage disorder
peroxisomal disorder