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GM1-gangliosidosis, type I, with cardiac involvement

MedGen UID:
369337
•Concept ID:
C1968748
•
Disease or Syndrome
Synonyms: Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement; Gm1 Gangliosidosis, Type I, with Cardiac Involvement
 
OMIM®: 230500; 611458

Recent clinical studies

Etiology

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.
Suzuki Y
Brain Dev 2013 Jun;35(6):515-23. Epub 2013 Jan 3 doi: 10.1016/j.braindev.2012.12.002. PMID: 23290321

Diagnosis

GM1 gangliosidosis: patients with different phenotypic features and novel mutations.
Emecen Sanli M, Dogan M
J Pediatr Endocrinol Metab 2023 Jun 27;36(6):602-607. Epub 2023 Apr 13 doi: 10.1515/jpem-2022-0630. PMID: 37042746
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.
Yang CF, Wu JY, Tsai FJ
J Biomed Sci 2010 Sep 30;17(1):79. doi: 10.1186/1423-0127-17-79. PMID: 20920281Free PMC Article

Therapy

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.
Suzuki Y
Brain Dev 2013 Jun;35(6):515-23. Epub 2013 Jan 3 doi: 10.1016/j.braindev.2012.12.002. PMID: 23290321

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