Korean J Pediatr.  2004 Dec;47(12):1360-1363.

A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis

• Jin HS
• Choi JH
• Yoo HW

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 beta-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.

Keyword

Tay-Sachs disease; G(M2) Ganglioside; Beta-N-acetylhexosaminidase

MeSH Terms

beta-N-Acetylhexosaminidases
Cell Membrane
Codon, Terminator
DNA*
Endoplasmic Reticulum
Enzyme Assays*
G(M2) Ganglioside
Glutamine
Hexosaminidase A
Hexosaminidases
Humans
Hyperacusis
Infant
Korea*
Lysosomes
Male
Motor Skills
Neurodegenerative Diseases
Prunus
Seizures
Tay-Sachs Disease*
Codon, Terminator
DNA
G(M2) Ganglioside
Glutamine
Hexosaminidase A
Hexosaminidases
beta-N-Acetylhexosaminidases