This website provides information on patients with mutations in the GM2A gene, including clinical data, molecular findings, its management and research options.

GM2 activator deficiency, caused by mutations in the GM2A gene is a multisystem disorder characterized by progressive psychomotor regression, exaggerated startle response and refractory seizures. Cherry red spot and hypotonia are the classical signs seen in infants with GM2A activator deficiency. However, not all individuals with a mutation in the GM2A gene will have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the GM2A gene.

Jayesh Sheth, PhD, FRIGE’s Institute of Human Genetics, Ahmedabad, India,

Aadhira Nair, MSc, FRIGE’s Institute of Human Genetics, Ahmedabad, India,

Chaitnya Datar, MD, Bharati Vidyapeeths Medical College, Pune, India,

Sheela Nampoothiri, MD, Amrita Institute of Medical Science, Kochin, India,

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