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What causes Tay-Sachs disease?

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Tay-Sachs is a rare disorder that’s commonly diagnosed in babies when they’re about 6 months old. A fault in a gene called HEXA causes it.

Most people have two healthy versions of this HEXA gene, which gives instructions to your body to make an enzyme (a type of protein) known as Hex-A. This enzyme prevents the build-up of a fatty substance, called GM2 ganglioside, in the brain and spinal cord. Babies born with Tay-Sachs don’t make any Hex-A protein. This is what makes them become so sick.

Over time, GM2 ganglioside builds up in their nervous system and starts to cause damage.

From: What is Tay-Sachs Disease? WebMD Medical Reference

SOURCES:

Mayo Clinic: “Tay-Sachs disease.”

National Human Genome Research Institute: “Learning About Tay-Sachs Disease.”

U.S. National Library of Medicine Genetics Home Reference: “Tay-Sachs Disease.”

National Tay-Sachs and Allied Diseases Association: “Classic Infantile Tay-Sachs,” “Symptom Management,” “Adult Onset Tay-Sachs.”

National Organization for Rare Diseases: “Tay Sachs Disease.”

Genetics in Medicine: “Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients.”

Cleveland Clinic Children’s: “Tay-Sachs.”

American College of Physicians, “Pulmonary Disease.”

Reviewed by Dan Brennan on October 16, 2018

SOURCES:

Mayo Clinic: “Tay-Sachs disease.”

National Human Genome Research Institute: “Learning About Tay-Sachs Disease.”

U.S. National Library of Medicine Genetics Home Reference: “Tay-Sachs Disease.”

National Tay-Sachs and Allied Diseases Association: “Classic Infantile Tay-Sachs,” “Symptom Management,” “Adult Onset Tay-Sachs.”

National Organization for Rare Diseases: “Tay Sachs Disease.”

Genetics in Medicine: “Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients.”

Cleveland Clinic Children’s: “Tay-Sachs.”

American College of Physicians, “Pulmonary Disease.”

Reviewed by Dan Brennan on October 16, 2018

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What are symptoms of Tay-Sachs disease?

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