Lysosomal storage disease
From SNPedia
The lysosomal storage diseases (LSDs) are a group of rare metabolic disorders generally caused by inherited enzyme deficiencies. Wikipedia Some of the more than 50 different types of LSDs are more common in Ashkenazi Jews than in other populations. [1].
- Alpha-mannosidosis
- Aspartylglucosaminuria
- Fabry disease is the second most common LSD
- Gaucher disease is the most common LSD
- Glycogen storage disease type II, also known as Pompe disease
- Mucolipidosis type I, also known as sialidosis
- Mucolipidosis type IV
- Neuronal ceroid lipofuscinoses (NCLs), including Kufs disease
- Niemann-Pick disease
- Salla disease, most often found in people of Finnish ancestry
- Tay-Sachs disease
