CC-BY-NC-ND 4.0 · International Journal of Epilepsy 2017; 04(02): 184-187
DOI: 10.1016/j.ijep.2017.08.001
Case report
Thieme Medical and Scientific Publishers Private Ltd.

GM2 activator protein deficiency, mimic of Tay-Sachs disease

Sheena P. Kochumon
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, 682041, Kerala, India
,
Dhanya Yesodharan
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, 682041, Kerala, India
,
KP Vinayan
Division of Pediatric Neurology, Department of Neurology, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO Kochi 682041, India
,
Natasha Radhakrishnan
Department of Ophthalmology, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, 682041, Kerala, India
,
Jayesh J. Sheth
Department of Biochemical and Molecular Genetics, FRIGE`s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India
,
Sheela Nampoothiri
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, 682041, Kerala, India
› Author Affiliations
Further Information

Publication History

Received: 18 March 2017

Accepted: 09 August 2017

Publication Date:
06 May 2018 (online)

Abstract

GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells. GM2-Activator protein deficiency is an extremely rare type of GM2 gangliosidosis (AB variant) caused by the mutation of GM2A.We report a case of a female child who presented with clinical features similar to classical Tay-Sachs disease, but with normal beta hexosaminidase enzyme levels. Molecular study revealed a novel homozygous intronic mutation which confirmed the diagnosis of GM2 Activator protein deficiency. GM2 Activator protein deficiency is a mimic of Classical Tay-Sachs disease and should be a differential diagnosis in children who present with neuroregression, cherry red spots without hepatosplenomegaly and with normal beta hexosaminidase enzyme levels.