Enzyme or protein defect
beta-Hexosaminidase A
Accumulates or becomes deficient
GM2 ganglioside
Key features
Cherry-red macula, hyperacusis/startle, progressive neurodegeneration; NO hepatosplenomegaly
Management
Supportive
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · from cache · sorted by publication date
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1
Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.
Frezatti RSS, Gonçalves TAP, de Albuquerque Bueno MG, Dos Santos ACJ, Wilson LA, Dominik N, Hanna MG, Morrow … · 2026-09-01
unreviewed -
2
Novel HEXB variant and first evidence of urinary Gb4 isoforms in Sandhoff disease: Biochemical and bioinformatic characterization in two Moroccan families.
Hammoud M, Rodrigues AMS, Assiri I, Najeh S, Jakani M, Berrachid A, Sabir ES, Lafhal K, El Foutat S, Bourrous… · 2026-05-20
unreviewed -
3
Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases.
Lewis CJ, Shirvan L, Johnston JM, Groden C, Yang J, Ashton A, Chong J, Moran M, Akmal H, Chipman SI, Zampieri… · 2026-08-03
unreviewed -
4
Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile.
Suárez-García DA, Espejo-Mojica AJ, Alméciga-Díaz CJ. · 2026-07-22
unreviewed -
5
Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.
Martakis K, Abreu NJ, Baker JJ, Baker Ii PR, Billington I, Burrow TA, Factor M, Fields T, Fields C, Gannon JL… · 2026-07-17
unreviewed -
6
Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations.
Amanat M, Toledano M, Schimmenti LA, Pichurin PN, Lanpher BC, Deyle DR, Tan QKG, Iverson G, Cera A, Gavrilova… · 2026-06-16
unreviewed -
7
[Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae].
Mengel KE, Mendoza G, Mani L, Deckert J, Arash-Kaps L. · 2026-06-03
unreviewed -
8
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tay… · 2026-05-17
open access unreviewed -
9
Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.
Nkrumah E, Al-Mulla H, Bashar A, Soman V, Saad C, Wang J, Darabi H, Yatsenko SA, Rajkovic A, Chandran U, Mbar… · 2026-05-14
open access unreviewed -
10
A comprehensive in silico investigation into the deleterious nonsynonymous single nucleotide polymorphisms of the human transcription factor EB (TFEB) gene and their predicted association with cancer.
Fuad M, Akter S, Mahmud Z, Tamanna S, Sayem M, Islam Zim AR, Hossain Howlader MZ. · 2026-03-30
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.