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Deficiency, Hexosaminidase alpha-Subunit (Variant B)

MedGen UID:
341336
•Concept ID:
C1848922
•
Disease or Syndrome
Synonyms: Deficiency, Hexosaminidase A; HexA Deficiency; Hexosaminidase A Deficiency; Hexosaminidase alpha Subunit Deficiency (Variant B); Hexosaminidase alpha-Subunit Deficiency (Variant B)

Recent clinical studies

Etiology

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
Tanaka A, Hoang LT, Nishi Y, Maniwa S, Oka M, Yamano T
J Hum Genet 2003;48(11):571-4. Epub 2003 Oct 18 doi: 10.1007/s10038-003-0080-9. PMID: 14566483

Diagnosis

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Sinici I, Ozkara HA, Topçu M, Ciliv G
Pediatr Int 2003 Feb;45(1):16-22. doi: 10.1046/j.1442-200x.2003.01669.x. PMID: 12654063

Therapy

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB
Mol Genet Metab 2011 Jan;102(1):6-12. Epub 2010 Sep 17 doi: 10.1016/j.ymgme.2010.09.004. PMID: 20926324Free PMC Article

Prognosis

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Sinici I, Ozkara HA, Topçu M, Ciliv G
Pediatr Int 2003 Feb;45(1):16-22. doi: 10.1046/j.1442-200x.2003.01669.x. PMID: 12654063

Clinical prediction guides

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB
Mol Genet Metab 2011 Jan;102(1):6-12. Epub 2010 Sep 17 doi: 10.1016/j.ymgme.2010.09.004. PMID: 20926324Free PMC Article
Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Sinici I, Ozkara HA, Topçu M, Ciliv G
Pediatr Int 2003 Feb;45(1):16-22. doi: 10.1046/j.1442-200x.2003.01669.x. PMID: 12654063
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T
Biochim Biophys Acta 1996 Nov 15;1317(2):127-33. doi: 10.1016/s0925-4439(96)00044-0. PMID: 8950198
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA
J Biol Chem 1986 Jun 25;261(18):8407-13. PMID: 3013851
Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis.
Sonderfeld S, Brendler S, Sandhoff K, Galjaard H, Hoogeveen AT
Hum Genet 1985;71(3):196-200. doi: 10.1007/BF00284572. PMID: 2933318

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