GM1 Gangliosidosis Follow-up

  • Author: David H Tegay, DO, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 29, 2012
 

Complications

  • Patients with G M1 gangliosidosis are at risk for aspiration pneumonia and recurrent respiratory infections resulting from neurologic compromise.
  • Congestive heart failure may result secondary to cardiomyopathy.
  • Atlantoaxial instability can develop because of abnormally shaped cervical vertebrae. If this occurs, patients should be monitored, and they eventually should undergo surgical stabilization to avoid the risk of spinal cord injury.
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Prognosis

  • Infantile (type 1): Death usually occurs during the second year of life because of infection and cardiopulmonary failure.[1]
  • Juvenile (type 2): Death usually occurs before the second decade of life.[1]
  • Adult (type 3): Phenotypic variability is marked, but progressive development of neurologic sequelae usually leads to a shortened lifespan.[1]
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Patient Education

  • Families of patients with GM1 gangliosidosis require education regarding the disease manifestations and potential complications.
  • A discussion of the genetic basis of the disorder should include recurrence risks and methods of carrier identification.
  • Genetic counseling should be available for at-risk couples to explain risk and options in future pregnancies, including prenatal diagnosis.
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Contributor Information and Disclosures
Author

David H Tegay, DO, FACMG  Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center

David H Tegay, DO, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Osteopathic Association, American Society of Human Genetics, and Federation of American Societies for Experimental Biology

Disclosure: Nothing to disclose.

Specialty Editor Board

Ian Krantz, MD  Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia

Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Shari Fallet, DO, to the original writing and development of this article.

References

  1. Suzuki Y, Oshima A, Nanba E. B-Galactosidase deficiency (B-Galactosidosis): GM1 gangliosidosis and Morquio B disease. In: 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.

  2. Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. Aug 2008;94(4):391-6. [Medline].

  3. Suzuki K. Neuropathology of late onset gangliosidoses. A review. Dev Neurosci. 1991;13(4-5):205-10. [Medline].

  4. 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. Nov 2004;19(11):1334-41. [Medline].

  5. Roze E, Paschke E, Lopez N, et al. Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov Disord. Oct 2005;20(10):1366-9. [Medline].

  6. 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. Jan 3 2012;[Medline].

  7. 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. Jan 13 2012;287(3):1801-12. [Medline]. [Full Text].

  8. Lenicker HM, Vassallo Agius P, Young EP, Attard Montalto SP. Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands. J Inherit Metab Dis. Sep 1997;20(5):723-4. [Medline].

  9. Severini MH, Silva CD, Sopelsa A, et al. High frequency of type 1 GM1 gangliosidosis in southern Brazil. Clin Genet. Aug 1999;56(2):168-9. [Medline].

  10. 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. Jan 2011;56(1):98-100. [Medline]. [Full Text].

  11. Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol. Jul 2003;139(7):916-20. [Medline].

  12. Snow TM. Mongolian spots in the newborn: do they mean anything?. Neonatal Netw. Jan-Feb 2005;24(1):31-3. [Medline].

  13. 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].

  14. Chamoles NA, Blanco MB, Iorcansky S, et al. Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card. Clin Chem. Nov 2001;47(11):2068. [Medline]. [Full Text].

  15. 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].

  16. 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].

  17. 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. Apr 2009;154(4):609-11. [Medline].

  18. [Guideline] Cunningham M, Cox EO. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics. Feb 2003;111(2):436-40. [Medline].

 
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