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
Disruptions in speech, language and social communication in lysosomal storage diseases.
Johnson G, Gool RV, Gaskin K, Wong J, Upadhyay J, Vogel AP. · 2026-09-02
unreviewed -
2
Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.
Sadaria R. · 2026-06-19
open access unreviewed -
3
Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.
Sparkes K, Winter M, Dekker GA, Chamley L, Larsen MJ, Thierry B. · 2026-10-02
open access unreviewed -
4
Decision-Making in IVF: Restrictions on PGT-M Positive Embryo Transfers-A Qualitative Study.
Donath E, Dubrow D, Boyd A, Gallagher K, Georges Merin B. · 2026-10-01
unreviewed -
5
Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing.
Lipiński P, Węgrzyn G. · 2026-09-19
open access unreviewed -
6
Recent Advances in CRISPR/Cas Technologies for Biological Discovery, Therapeutics, and Diagnostics.
Kim MS, Do HS, Jang HY, Lee KE, Lee SJ. · 2026-09-02
open access unreviewed -
7
Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H. · 2026-09-04
open access unreviewed -
8
A Comparative Analysis of Aging Across Causes of Death.
Sorci G, Faivre B. · 2026-09-01
open access unreviewed -
9
Advances in prime editing: Molecular innovations, Large-fragment engineering, and AI-driven design.
Muhammad W, Cao X, Umar A, Nauman K, Jiao Z, Liu J, Wang X, Xu K. · 2026-06-30
open access unreviewed -
10
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM. · 2026-09-01
cited 1× unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.