Deficiency of enzyme hexosaminidase, n subunit causes
Tay-Sachs disease, by far the most common of all gangliosidoses, is characterized by a mutation in and consequent deficiency of the b subunit of theenzyme hexosaminidase A, which is necessary for the degradation of GM2. More than 100 mutations have been described; most affect protein folding or intracellular transpo. The brain is principally affected Type II glycogenosis (Pompe disease) is caused by a deficiency of lysosomal acid maltase and so is associated with deposition of glycogen in viually every organ, but cardiomegaly is most prominent. MPS type I, also known as Hurler syndrome, is caused by a deficiency of a-L-iduronidase. (Robbins Basic Pathology,9th edition,pg no. 229)
Tay-Sachs disease
Hurler syndrome
Fabry disease
Pompe disease
General pathology