| GM2-gangliosidosis, AB variant | |
|---|---|
| Other names | Hexosaminidase activator deficiency[1] |
 | |
| GM2-gangliosidosis, AB variant has an autosomal recessive pattern of inheritance. | |
| Specialty | Neurology, medical genetics, endocrinology  |
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]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: GM2 gangliosidosis, AB variant". www.orpha.net. Retrieved 9 April 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Online Mendelian Inheritance in Man". United States National Institute of Health. Retrieved 2009-04-21.
- ^ Mahuran, Dj (Oct 1999). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1455 (2–3): 105–38. doi:10.1016/S0925-4439(99)00074-5. ISSN 0006-3002. PMID 10571007.