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Volume : 37 Issue : 2 Year : 2022

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GM2 Gangliosidosis [Medeniyet Med J]
Medeniyet Med J. 2004; 19(1): 62-63

GM2 Gangliosidosis

Suar Çakı, Özlem Başoğlu Öner, Banu Bal, Müferet Ergüven
Göztepe SSK Hospital, Child Health and Diseases, Istanbul

GM2 gangliosidosis are neurodegenerative disorders, charecterized with hexosaminidase or GM2 activator protein deficiency. All are transmitted by autosomal recessive inheritance. Hexosaminidase activity measurement is necessary for the diagnosis. A five-year old girl is referred to our clinic with hypotonia, neuromotor retardation, course facial feature and hepatosplenomegaly. Her parents are relatives and with these features storage disease is thought. Hexosaminidase deficiency is found with blood leukocyte enzym analyse and GM2 ganglisidosis diagnosis is made. Gangliosidosisses are rare diseases. Relative mariages are common in our country. With this case report we want to pay attention to the patients with neuromotor retardation and hepatosplenomegaly, gangliosis must be thought in the differential diagnosis. Because there isn’t any effective therapy, prenatal diagnosis is essential for the disease.

Keywords: GM2 gangliosidosis, hexosaminidase, Sandhoff

GM2 Gangliosidoz

Suar Çakı, Özlem Başoğlu Öner, Banu Bal, Müferet Ergüven
Göztepe SSK Eğitim Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, İstanbul

Anahtar Kelimeler: GM2 gangliosidoz, heksosaminidase, Sandhoff

Suar Çakı, Özlem Başoğlu Öner, Banu Bal, Müferet Ergüven. GM2 Gangliosidosis. Medeniyet Med J. 2004; 19(1): 62-63

Corresponding Author: Suar Çakı, Türkiye

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