Infantile GM1 gangliosidosis

Common Name(s)

Infantile GM1 gangliosidosis

GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form ({230600}), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form ({230650}), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity ({34:Suzuki et al., 2001}). See also Morquio B disease ({253010}), an allelic disorder with skeletal anomalies and no neurologic involvement. The GM2-gangliosidoses include Tay-Sachs disease ({272800}) and Sandhoff disease ({268800}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile GM1 gangliosidosis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Infantile GM1 gangliosidosis" returned 4 free, full-text research articles on human participants. First 3 results:

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.
 

Author(s): E De Grandis, M Di Rocco, A Pessagno, E Veneselli, A Rossi

Journal: AJNR Am J Neuroradiol. 2009 Aug;30(7):1325-7.

 

Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly. Neuroimaging findings have been reported in only a few cases. Here we report ...

Last Updated: 11 Aug 2009

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Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
 

Author(s): A Hinek, S Zhang, A C Smith, J W Callahan

Journal: Am. J. Hum. Genet.. 2000 Jul;67(1):23-36.

 

We have previously shown that intracellular trafficking and extracellular assembly of tropoelastin into elastic fibers is facilitated by the 67-kD elastin-binding protein identical to an enzymatically inactive, alternatively spliced variant of beta-galactosidase (S-Gal). In the present ...

Last Updated: 7 Aug 2000

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Neuroimaging findings in late infantile GM1 gangliosidosis.
 

Author(s): C Y Chen, R A Zimmerman, C C Lee, F H Chen, Y S Yuh, H S Hsiao

Journal: AJNR Am J Neuroradiol. 1998 Oct;19(9):1628-30.

 

Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly. We report the CT and MR imaging findings in one infant, which included abnormalities ...

Last Updated: 15 Jan 1999

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Synergistic Enteral Regimen for Treatment of the Gangliosidoses
 

Status: Recruiting

Condition Summary: GM1 Gangliosidoses; GM2 Gangliosidoses; Tay-Sachs Disease; Sandhoff Disease

 

Last Updated: 5 Mar 2014

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