GM1 Gangliosidosis Treatment & Management
- Author: David H Tegay, DO, FACMG; Chief Editor: Luis O Rohena, MD more...
Currently, no effective medical treatment is available for the underlying disorder in patients with G M1 gangliosidosis. Bone marrow transplantation was successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment because of success in other lysosomal storage disorders.
Symptomatic treatment for some neurologic sequelae is available but does not significantly alter the clinical course.
Active research in the areas of enzyme replacement and gene therapy for GM1 gangliosidosis is ongoing but has not advanced to human trials.
See the list below:
- Clinical geneticist - For initial evaluation and diagnosis, to counsel families regarding recurrence risk, and to help provide prenatal testing for future pregnancies
- Neurologist - For symptomatic therapy of multiple neurologic sequelae
- Cardiologist - To evaluate for cardiomyopathy
- Orthopedist - To evaluate for dysostosis multiplex
- Ophthalmologist - To evaluate for ocular stigmata
- Otolaryngologist and audiologist - To assess for hearing loss
No specific dietary modifications have been shown to significantly alter the clinical course.
Infants may ultimately require tube feeding to provide adequate intake of energy; however, nutritional support does not change the disease course, and some families may choose to forgo invasive alimentation procedures.
Neurologic and orthopedic sequelae may preclude adequate physical activity, and patients may benefit from physical and occupational therapy.
Suzuki Y, Oshima A, Nanba E. B-Galactosidase deficiency (B-Galactosidosis): GM1 gangliosidosis and Morquio B disease. Scriver CR, Sly WS, Valle D, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill Professional; 2001. 3775-810.
Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug. 94(4):391-6. [Medline].
Suzuki K. Neuropathology of late onset gangliosidoses. A review. Dev Neurosci. 1991. 13(4-5):205-10. [Medline].
Muthane U, Chickabasaviah Y, Kaneski C, et al. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Mov Disord. 2004 Nov. 19(11):1334-41. [Medline].
Roze E, Paschke E, Lopez N, et al. Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov Disord. 2005 Oct. 20(10):1366-9. [Medline].
Celtikçi B, Aydin HI, Sivri S, Sönmez M, Topçu M, Ozkara HA. Four novel mutations in the ß-galactosidase gene identified in infantile type of GM1 gangliosidosis. Clin Biochem. 2012 Jan 3. [Medline].
Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T. Crystal structure of human ß-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. J Biol Chem. 2012 Jan 13. 287(3):1801-12. [Medline]. [Full Text].
King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, et al. Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. J Genet Couns. 2014 Oct. 23(5):734-41. [Medline].
Zhong L, Zhang Z, Lu X, Liu S, Chen CY, Chen ZW. NSOM/QD-based visualization of GM1 serving as platforms for TCR/CD3 mediated T-cell activation. Biomed Res Int. 2013. 2013:276498. [Medline]. [Full Text].
Lenicker HM, Vassallo Agius P, Young EP, Attard Montalto SP. Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands. J Inherit Metab Dis. 1997 Sep. 20(5):723-4. [Medline].
Severini MH, Silva CD, Sopelsa A, et al. High frequency of type 1 GM1 gangliosidosis in southern Brazil. Clin Genet. 1999 Aug. 56(2):168-9. [Medline].
Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol. 2011 Jan. 56(1):98-100. [Medline]. [Full Text].
Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K. Paramagnetic Signals in the Globus Pallidus as Late Radiographic Sign of Juvenile-Onset GM1 Gangliosidosis. Pediatr Neurol. 2014 Oct 16. [Medline].
Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol. 2003 Jul. 139(7):916-20. [Medline].
Snow TM. Mongolian spots in the newborn: do they mean anything?. Neonatal Netw. 2005 Jan-Feb. 24(1):31-3. [Medline].
Suzuki Y, Sakuraba H, Oshima A, et al. Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency. Dev Neurosci. 1991. 13(4-5):299-303. [Medline].
Morrone A, Bardelli T, Donati MA, et al. Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat. 2000. 15(4):354-66. [Medline].
Shield JP, Stone J, Steward CG. Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis. J Inherit Metab Dis. 2005. 28(5):797-8. [Medline].
Wynn RF, Wraith JE, Mercer J, et al. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J Pediatr. 2009 Apr. 154(4):609-11. [Medline].
[Guideline] Cunningham M, Cox EO. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics. 2003 Feb. 111(2):436-40. [Medline].