What are the Common Types of Storage Diseases in Neonates?
Several types of storage diseases can present in the neonatal period, including:
- Gaucher Disease: A deficiency in the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in cells. - Pompe Disease: Caused by a deficiency of acid alpha-glucosidase, leading to glycogen accumulation in lysosomes. - Tay-Sachs Disease: A deficiency in the enzyme hexosaminidase A, causing accumulation of GM2 ganglioside in neurons. - Fabry Disease: Due to a deficiency of alpha-galactosidase A, leading to the buildup of globotriaosylceramide.
