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Korean Journal of Pediatrics 2004;47(12):1360-1363.
A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis
Hyun-Seung Jin, Jin-Ho Choi, Han-Wook Yoo
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
효소 분석 및 유전자 분석으로 진단된 한국인 Tay-Sachs 병 1례
진현승, 최진호, 유한욱
울산대학교 의과대학 서울아산병원 소아과
Correspondence:  Han-Wook Yoo,
Email: hwyoo@amc.seoul.kr
Abstract
Tay-Sachs disease is an autosomal recessive, neurodegenerative disorder that results from excessive storage of the cell membrane glycolipid, and GM2 ganglioside within the lysosomes of cells. This disease is caused by deficiency of the isoenzyme β-hexosaminidase A, produced in the endoplasmic reticulum. Patients with Tay-Sachs disease are characterized by normal motor development in the first few months of life, followed by progressive weakness and loss of motor skills beginning around 2 to 6 months of life. Neurodegeneration is relentless, with death occurring by the age of 4 or 5 years. Tay-Sachs disease could be diagnosed by hexosaminidase enzyme assay and DNA analysis of HEXA gene. However, specific treatment has not been developed. We report here on a case of Tay- Sachs disease in 18-month-old male who presented with delayed development and seizure. This patient showed hyperacusis and cherry red spot in macula on examination of the fundus. The hexosaminidase A activity was zero percent in the enzymatic assay and DNA analysis identified a mutation that glutamine is substituted by stop codon at position 390(Q390X). This patient is the first case of Tay-Sachs disease in Korea diagnosed by enzymatic assay and DNA analysis.
Key Words: Tay-Sachs disease, G(M2) Ganglioside, Beta-N-acetylhexosaminidase


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