Each represents a distinct molecular point of failure in a subunit that is required for activation of the enzyme. Tay–Sachs disease
Tay–Sachs disease is a rare autosomal recessive genetic disorder that causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four. It is the most common of the GM2 gangliosidoses. The disease occurs when harmful quantities of cell membrane gangliosides accumulate in the brains nerve cells, eventually leading to the premature death of the cells. Sandhoff disease
Sandhoff disease is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. The disease results from mutations on chromosome 5 in the HEXB gene, critical for the lysosomal enzymes beta-N-acetylhexosaminidase A and B. Sandhoff disease is clinically indistinguishable from Tay–Sachs disease. The most common form, infantile Sandhoff disease, is usually fatal by early childhood. AB variant
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Mutations in the GM2A gene cause AB variant. The GM2A gene provides instructions for making a protein called the GM2 activator. This protein is a cofactor that is required for the normal function of beta-hexosaminidase A. The disease is usually fatal by early childhood. Treatment
There are no authorized therapies for the treatment of the GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease).
It is converted to aciclovir in the body after absorption.In 2009, acyclovir in combination with hydrocortisone cream, marketed as Xerese, was approved in the United States for the early treatment of recurrent herpes labialis (cold sores) to reduce the likelihood of ulcerative cold sores and to shorten the lesion healing time in adults and children (six years of age and older). Society and culture
Names
Aciclovir is the international nonproprietary name (INN) and British Approved Name (BAN) while acyclovir is the United States Adopted Name (USAN) and former British Approved Name.It was originally marketed as Zovirax; patents expired in the 1990s and since then it is generic and is marketed under many brand names worldwide. Notes
References
Further reading
Hazra, S; Konrad, M; Lavie, A (2010). "The sugar ring of the nucleoside is required for productive substrate positioning in the active site of human deoxycytidine kinase (dCK): Implications for the development of dCK-activated acyclic guanine analogues". Journal of Medicinal Chemistry. 53 (15): 5792–800. doi:10.1021/jm1005379. PMC 2936711. PMID 20684612. Harvey Stewart C. in Remingtons Pharmaceutical Sciences 18th edition: (ed. Gennard, Alfonso R.)  Mack Publishing Company, 1990. ISBN 0-912734-04-3. Huovinen P., Valtonen V. in Kliininen Farmakologia (ed. Neuvonen et al.). Kandidaattikustannus Oy, 1994. ISBN 951-8951-09-8. Périgaud C.; Gosselin G.; Imbach J.-L. (1992). "Nucleoside analogues as chemotherapeutic agents: a review". Nucleosides and Nucleotides. 11 (2–4): 903–945. doi:10.1080/07328319208021748. Rang H.P., Dale M.M., Ritter J.M. : Pharmacology, 3rd edition. Pearson Professional Ltd, 1995. 2003 (5th) edition ISBN 0-443-07145-4; 2001 (4th) edition ISBN 0-443-06574-8; 1990 edition ISBN 0-443-03407-9. External links
"Acyclovir". Drug Information Portal.