What are the Common Types of Lysosomal Storage Disorders in Neonates?
There are several types of LSDs that can present in the neonatal period. Some of the more common ones include:
- Gaucher Disease: Caused by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside. - Pompe Disease: A deficiency in acid alpha-glucosidase leads to glycogen accumulation in muscles and other tissues. - Niemann-Pick Disease: A lack of sphingomyelinase causes sphingomyelin and other lipids to accumulate in organs. - Mucopolysaccharidoses (MPS): A group of disorders caused by defects in enzymes responsible for breaking down glycosaminoglycans.
