GM2-gangliosidosis, AB variant
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GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. It has a similar pathology to Sandhoff disease and Tay–Sachs disease. The three diseases are classified together as the GM2 gangliosidoses, because each disease represents a distinct molecular point of failure in the activation of the same enzyme, beta-hexosaminidase. AB variant is caused by a failure in the gene that makes an enzyme cofactor for beta-hexosaminidase, called the GM2 activator.[2][3]
Quick Facts Other names, Specialty ...
GM2-gangliosidosis, AB variant | |
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Other names | Hexosaminidase activator deficiency[1] |
GM2-gangliosidosis, AB variant has an autosomal recessive pattern of inheritance. | |
Specialty | Neurology, medical genetics, endocrinology |
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