Tay-Sachs disease

Term · Chemistry · MLC-T-CHM-011836

A rare, inherited neurodegenerative disorder caused by a deficiency of the enzyme beta-hexosaminidase A, leading to the accumulation of GM2 gangliosides in nerve cells. This lysosomal storage disease results in progressive neurological deterioration, including developmental regression, seizures, and blindness. It is an autosomal recessive genetic disorder, with symptoms typically appearing in infancy.

Table 1. Record
Identifier	MLC-T-CHM-011836
Field	Chemistry
Subject	Chemistry and Human Health
Synonyms	infantile GM2 gangliosidosis
References	PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 811 (https://doi.org/10.1515/pac-2015-1202)
See also	Autosomal recessive mutation; Β-N-acetylhexosaminidase; Lysosomal storage disease; Neuron

Record as JSON

{
  "id": "MLC-T-CHM-011836",
  "term": "Tay-Sachs disease",
  "field": "Chemistry",
  "definition": "A rare, inherited neurodegenerative disorder caused by a deficiency of the enzyme beta-hexosaminidase A, leading to the accumulation of GM2 gangliosides in nerve cells. This lysosomal storage disease results in progressive neurological deterioration, including developmental regression, seizures, and blindness. It is an autosomal recessive genetic disorder, with symptoms typically appearing in infancy.",
  "synonyms": [
    "infantile GM2 gangliosidosis"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "autosomal recessive mutation",
    "β-N-acetylhexosaminidase",
    "lysosomal storage disease",
    "neuron"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 811 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/tay-sachs-disease/"
}

Record 12,623 of 13,678 in Chemistry terminology (MLC-0109). Request the full dataset.