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Beta-hexosaminidase a, pseudodeficiency of

MedGen UID:
934859
•Concept ID:
C4310892
•
Disease or Syndrome
Synonym: BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
 
OMIM®: 606869

Professional guidelines

PubMed

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.
Kaback MM
Eur J Pediatr 2000 Dec;159 Suppl 3:S192-5. doi: 10.1007/pl00014401. PMID: 11216898

Recent clinical studies

Etiology

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA
Mol Genet Genomic Med 2019 Aug;7(8):e836. Epub 2019 Jul 10 doi: 10.1002/mgg3.836. PMID: 31293106Free PMC Article
Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
Olkhovych NV, Gorovenko NG
Ukr Biochem J 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. PMID: 29235819
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.
Kaback MM
Eur J Pediatr 2000 Dec;159 Suppl 3:S192-5. doi: 10.1007/pl00014401. PMID: 11216898
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Prence EM, Jerome CA, Triggs-Raine BL, Natowicz MR
J Med Screen 1997;4(3):133-6. doi: 10.1177/096914139700400304. PMID: 9368869
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM
J Med Genet 1996 Oct;33(10):829-32. doi: 10.1136/jmg.33.10.829. PMID: 8933335Free PMC Article

Diagnosis

Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
Olkhovych NV, Gorovenko NG
Ukr Biochem J 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. PMID: 29235819
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM
Pediatr Res 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318. PMID: 19858779
Lysosomal storage disorders.
Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
Cao Z, Petroulakis E, Salo T, Triggs-Raine B
J Biol Chem 1997 Jun 6;272(23):14975-82. doi: 10.1074/jbc.272.23.14975. PMID: 9169471
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Mules EH, Hayflick S, Dowling CE, Kelly TE, Akerman BR, Gravel RA, Thomas GH
Hum Mutat 1992;1(4):298-302. doi: 10.1002/humu.1380010406. PMID: 1301937

Prognosis

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA
Mol Genet Genomic Med 2019 Aug;7(8):e836. Epub 2019 Jul 10 doi: 10.1002/mgg3.836. PMID: 31293106Free PMC Article
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM
Pediatr Res 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318. PMID: 19858779
Eight novel mutations in the HEXA gene.
McGinniss MJ, Brown DH, Fulwiler A, Marten M, Lim-Steele JS, Kaback MM
Genet Med 2002 May-Jun;4(3):158-61. doi: 10.1097/00125817-200205000-00010. PMID: 12180151
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Leinekugel P, Michel S, Conzelmann E, Sandhoff K
Hum Genet 1992 Mar;88(5):513-23. doi: 10.1007/BF00219337. PMID: 1348043

Clinical prediction guides

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA
Mol Genet Genomic Med 2019 Aug;7(8):e836. Epub 2019 Jul 10 doi: 10.1002/mgg3.836. PMID: 31293106Free PMC Article
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM
Pediatr Res 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318. PMID: 19858779
Lysosomal storage disorders.
Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Leinekugel P, Michel S, Conzelmann E, Sandhoff K
Hum Genet 1992 Mar;88(5):513-23. doi: 10.1007/BF00219337. PMID: 1348043
Deficiency of lysosomal hydrolases in apparently healthy individuals.
Zlotogora J, Bach G
Am J Med Genet 1983 Jan;14(1):73-80. doi: 10.1002/ajmg.1320140112. PMID: 6131608

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